PTPN9
protein tyrosine phosphatase non-receptor type 9
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. 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]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4886707 | 15:75,755,467 | C/T | downstream gene variant | — |
| rs190200207 | 15:75,756,960 | A/G | downstream gene variant | — |
| rs2074549244 | 15:75,761,141 | C/T | — | uncertain significance |
| rs62029744 | 15:75,762,128 | G/A | — | likely benign |
| rs372830341 | 15:75,762,199 | G/A | — | uncertain significance |
| rs563208732 | 15:75,762,202 | C/T | — | uncertain significance |
| rs370340509 | 15:75,762,328 | G/A | — | uncertain significance |
| rs150528240 | 15:75,763,044 | T/C | — | uncertain significance |
| rs777730659 | 15:75,763,055 | T/A | — | uncertain significance |
| rs370582138 | 15:75,763,074 | C/T | — | uncertain significance |
| rs2542892619 | 15:75,763,094 | A/G | — | uncertain significance |
| rs979297605 | 15:75,763,115 | G/A | — | uncertain significance |
| rs28737338 | 15:75,768,679 | C/G | — | — |
| rs77716675 | 15:75,781,554 | A/G | intron variant | — |
| rs370139184 | 15:75,798,037 | A/G | — | uncertain significance |
| rs149279759 | 15:75,798,043 | T/A | — | uncertain significance |
| rs2074816204 | 15:75,798,075 | G/C | — | uncertain significance |
| rs144459324 | 15:75,798,254 | C/T | — | uncertain significance |
| rs530559093 | 15:75,798,269 | C/G | — | uncertain significance |
| rs2542924271 | 15:75,798,301 | C/T | — | uncertain significance |
| rs140000948 | 15:75,801,350 | A/C | — | uncertain significance |
| rs764715102 | 15:75,801,353 | G/A | — | uncertain significance |
| rs4381565 | 15:75,802,154 | A/G | downstream gene variant | — |
| rs8027365 | 15:75,808,740 | A/C | upstream gene variant | — |
| rs8027546 | 15:75,808,791 | C/T | upstream gene variant | — |
| rs151265510 | 15:75,815,497 | C/T | — | benign |
| rs141342401 | 15:75,816,584 | C/T | — | uncertain significance |
| rs12904319 | 15:75,816,649 | A/C | downstream gene variant | — |
| rs2542938140 | 15:75,819,565 | G/A | — | uncertain significance |
| rs188298493 | 15:75,837,124 | T/C | intron variant | — |
| rs11853464 | 15:75,863,915 | A/G | intron variant | — |
| rs7184046 | 15:75,866,150 | G/C | intron variant | — |
| rs75393192 | 15:75,870,551 | C/G | — | — |
| rs1253782595 | 15:75,871,087 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.