PTPN6
protein tyrosine phosphatase non-receptor type 6
Summary
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]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs587777698 | 12:7,053,770 | C/T | stop gained | pathogenic |
| rs140376177 | 12:7,058,465 | A/G | regulatory region variant | — |
| rs1591683478 | 12:7,060,691 | C/A | — | likely benign |
| rs377223489 | 12:7,060,765 | C/T | — | uncertain significance |
| rs200900053 | 12:7,060,766 | G/A | — | conflicting classifications of pathogenicity |
| rs114945777 | 12:7,060,889 | C/T | — | benign |
| rs377254990 | 12:7,060,890 | G/A | — | uncertain significance |
| rs782163170 | 12:7,061,279 | C/T | — | uncertain significance |
| rs201550362 | 12:7,064,006 | C/T | — | uncertain significance |
| rs782700653 | 12:7,064,111 | G/A | — | uncertain significance |
| rs781988918 | 12:7,064,320 | C/T | — | uncertain significance |
| rs782304451 | 12:7,064,344 | A/T | — | uncertain significance |
| rs781875658 | 12:7,064,364 | C/G | — | uncertain significance |
| rs375296528 | 12:7,064,410 | G/A | — | uncertain significance |
| rs2542716778 | 12:7,064,646 | G/A | — | uncertain significance |
| rs782211008 | 12:7,065,609 | G/A | — | likely benign |
| rs190247406 | 12:7,066,825 | C/T | — | benign |
| rs377517197 | 12:7,066,841 | G/A | — | uncertain significance |
| rs376886181 | 12:7,066,908 | A/C | — | uncertain significance |
| rs116298095 | 12:7,066,939 | G/A | — | benign |
| rs2542726421 | 12:7,066,950 | T/G | — | uncertain significance |
| rs782369583 | 12:7,067,074 | C/T | — | benign |
| rs2542727485 | 12:7,067,087 | C/A | — | uncertain significance |
| rs2542728082 | 12:7,067,206 | C/A | — | uncertain significance |
| rs113854853 | 12:7,069,126 | C/T | — | benign |
| rs1946099608 | 12:7,069,137 | T/C | — | uncertain significance |
| rs185835888 | 12:7,069,329 | C/T | missense variant | — |
| rs114388315 | 12:7,069,342 | C/T | — | benign |
| rs182198998 | 12:7,069,497 | C/G | — | benign |
| rs782688576 | 12:7,069,526 | C/T | — | uncertain significance |
| rs200155138 | 12:7,069,583 | C/T | — | uncertain significance |
| rs759052 | 12:7,069,620 | T/C | upstream gene variant | — |
| rs61753203 | 12:7,069,837 | C/A | — | uncertain significance |
| rs111262295 | 12:7,069,859 | G/A | — | benign |
| rs1268222170 | 12:7,069,887 | G/A | — | uncertain significance |
| rs782611366 | 12:7,069,935 | C/G | — | uncertain significance |
| rs375291511 | 12:7,069,997 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.