EDK
Editome Disease Knowledgebase
FLNA
| Gene symbol | FLNA |
|---|---|
| Aliases | - |
| Protein Name | Filamin-A |
| Function | The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Psoriasis; Cardiac disease; Cardiovascular disease; |
| Description | Decreased editing in highly conserved recoding sites in FLNA, might alter their function, leading to keratinocyte prolifera- tion, and impaired differentiation. And the decreased A-to-I ed- iting in keratinocytes could be involved in the exacerbation of psoriasis. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P21333(Uniport); NM_001456 (NM id); 8621 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | AA Seq Position | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | CDS | 2341 | 7275 | CAG->CGG | Q->R | Nonsynonymous substitution | Decrease | Cardiovascular tissues | NA | Contribute to cardiovascular diseases | ||
|
NA | CDS | NA | NA | NA | NA | Nonsynonymous substitution | Decrease | Psoriatic lesions; Uninvolved skin; Healthy control skin samples | NA | Exacerbation the psoriasis |