EDK
Editome Disease Knowledgebase
PTPN6
| Gene symbol | PTPN6 |
|---|---|
| Aliases | - |
| Protein Name | Tyrosine-protein phosphatase non-receptor type 6 |
| Function | Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Plays a key role in hematopoiesis. The involvement of post-transcriptional PTPN6 processing in leukemogenesis. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Acute Myeloid Leukemia; |
| Description | The involvement of post-transcriptional PTPN6 processing in leukemogenesis. The editing of PTPN6 mRNA mainly occurred as an A-->G conversion of A(7866), which represents the putative branch site in IVS3 of PTPN6 mRNA.And it results that aberrant splicing within the N-SH2 domain leading to retention of intron 3. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P29350(Uniport); NM_002831 (NM id); 5777 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | Intronic | 7866 | Alternative splicing | Present | Bone marrow; Peripheral blood samples | RNA editing results that aberrant splicing within the N-SH2 domain leading to retention of intron 3 in PTPN6, and involvement of processing in leukemogenesis. | Affect disease processing |
|