PTPN12
protein tyrosine phosphatase non-receptor type 12
Summary
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]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs964534265 | 7:77,166,944 | C/G | — | uncertain significance |
| rs17155183 | 7:77,200,392 | A/T | — | benign |
| rs1246604209 | 7:77,200,436 | A/G | — | uncertain significance |
| rs121434623 | 7:77,200,477 | A/G | missense variant | pathogenic |
| rs372728704 | 7:77,210,788 | G/C | — | uncertain significance |
| rs369228581 | 7:77,212,874 | C/T | — | likely benign |
| rs770147304 | 7:77,212,875 | G/A | — | uncertain significance |
| rs767906152 | 7:77,212,916 | A/G | — | likely benign |
| rs199903228 | 7:77,214,879 | G/A | — | uncertain significance |
| rs780701558 | 7:77,214,905 | A/G | — | likely benign |
| rs143032580 | 7:77,229,977 | G/A | — | likely benign |
| rs368515888 | 7:77,229,988 | G/A | — | uncertain significance |
| rs756178175 | 7:77,230,082 | A/G | — | likely benign |
| rs112029703 | 7:77,238,678 | T/A | intron variant | — |
| rs10278337 | 7:77,239,222 | C/A | intron variant | — |
| rs200238133 | 7:77,240,335 | A/G | — | uncertain significance |
| rs2537093401 | 7:77,240,350 | T/C | — | uncertain significance |
| rs748436885 | 7:77,240,359 | G/A | — | uncertain significance |
| rs375942552 | 7:77,241,171 | G/A | — | — |
| rs9640663 | 7:77,247,821 | G/A | missense variant | benign |
| rs770232959 | 7:77,256,080 | G/A | — | uncertain significance |
| rs370159470 | 7:77,256,276 | A/T | — | uncertain significance |
| rs145330429 | 7:77,256,365 | A/C | — | uncertain significance |
| rs1789219294 | 7:77,256,450 | T/C | — | uncertain significance |
| rs370038452 | 7:77,256,537 | C/T | — | uncertain significance |
| rs758489821 | 7:77,256,569 | C/T | — | likely benign |
| rs764021524 | 7:77,256,600 | C/T | — | uncertain significance |
| rs1789230370 | 7:77,256,633 | C/T | — | uncertain significance |
| rs775784427 | 7:77,256,638 | C/G | — | uncertain significance |
| rs374583053 | 7:77,256,663 | C/T | — | uncertain significance |
| rs143175780 | 7:77,256,707 | A/G | — | uncertain significance |
| rs3750050 | 7:77,256,713 | A/G | — | benign |
| rs781634046 | 7:77,256,746 | C/T | — | uncertain significance |
| rs112995142 | 7:77,256,805 | T/C | — | likely benign |
| rs769780549 | 7:77,256,816 | A/T | — | uncertain significance |
| rs779668949 | 7:77,256,879 | G/A | — | uncertain significance |
| rs1405629300 | 7:77,256,953 | C/T | — | uncertain significance |
| rs565942809 | 7:77,256,966 | G/A | — | uncertain significance |
| rs554595566 | 7:77,256,967 | A/G | — | benign |
| rs774347812 | 7:77,265,136 | T/C | — | likely benign |
| rs2230602 | 7:77,265,140 | G/A | — | benign |
| rs947646340 | 7:77,268,018 | T/C | — | uncertain significance |
| rs1418531239 | 7:77,268,587 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.