PTPN22
protein tyrosine phosphatase non-receptor type 22
Summary
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3811021 | 1:114,356,663 | A/G | upstream gene variant | — |
| rs866332676 | 1:114,357,573 | G/A | — | uncertain significance |
| rs1217413 | 1:114,357,750 | G/A | upstream gene variant | — |
| rs201875159 | 1:114,362,188 | A/G | — | likely benign |
| rs2476599 | 1:114,363,459 | G/A | intron variant | — |
| rs1237682 | 1:114,364,104 | T/A | — | — |
| rs1217388 | 1:114,364,476 | G/A | intron variant | — |
| rs757586436 | 1:114,367,778 | C/T | — | uncertain significance |
| rs56048322 | 1:114,372,214 | C/G | — | conflicting classifications of pathogenicity |
| rs780598571 | 1:114,372,293 | C/G | — | uncertain significance |
| rs3761935 | 1:114,372,528 | T/G | downstream gene variant | — |
| rs147233796 | 1:114,372,624 | G/C | — | uncertain significance |
| rs183145687 | 1:114,372,630 | G/C | — | benign |
| rs1310182 | 1:114,373,503 | A/C | — | — |
| rs12746551 | 1:114,374,966 | C/T | — | — |
| rs780303111 | 1:114,375,759 | C/G | — | uncertain significance |
| rs776367870 | 1:114,376,962 | A/G | — | likely benign |
| rs149915690 | 1:114,376,985 | A/T | — | benign |
| rs1599971 | 1:114,377,093 | A/G | intron variant | — |
| rs745646055 | 1:114,377,530 | A/G | — | uncertain significance |
| rs2476601 | 1:114,377,568 | G/A | missense variant | benign |
| rs1449920450 | 1:114,377,586 | G/C | — | uncertain significance |
| rs190093444 | 1:114,380,321 | C/T | — | likely benign |
| rs2525926334 | 1:114,380,383 | A/G | — | uncertain significance |
| rs114092230 | 1:114,380,395 | T/C | — | likely benign |
| rs74163657 | 1:114,380,439 | T/C | — | uncertain significance |
| rs1045662456 | 1:114,380,474 | C/T | — | likely benign |
| rs202143877 | 1:114,380,493 | C/T | — | uncertain significance |
| rs570783720 | 1:114,380,508 | G/C | — | benign |
| rs74163656 | 1:114,380,591 | A/G | — | likely benign |
| rs200292847 | 1:114,380,611 | A/T | — | uncertain significance |
| rs771166019 | 1:114,380,615 | A/G | — | likely benign |
| rs72650672 | 1:114,380,656 | G/C | — | likely benign |
| rs774164587 | 1:114,380,671 | G/C | — | uncertain significance |
| rs757630135 | 1:114,380,721 | G/T | — | uncertain significance |
| rs760438127 | 1:114,380,789 | C/A | — | uncertain significance |
| rs549987696 | 1:114,380,892 | G/A | — | uncertain significance |
| rs72650671 | 1:114,380,914 | G/T | — | conflicting classifications of pathogenicity |
| rs141677022 | 1:114,380,944 | C/T | — | uncertain significance |
| rs12730735 | 1:114,381,457 | T/A | — | — |
| rs974404 | 1:114,382,025 | G/T | intron variant | — |
| rs12760457 | 1:114,389,748 | C/T | intron variant | — |
| rs778423592 | 1:114,391,217 | A/G | — | uncertain significance |
| rs2526068911 | 1:114,391,225 | A/T | — | uncertain significance |
| rs1217407 | 1:114,393,748 | A/G | intron variant | — |
| rs3765598 | 1:114,394,463 | C/T | upstream gene variant | — |
| rs74163650 | 1:114,394,645 | A/C | — | likely benign |
| rs33996649 | 1:114,394,689 | C/T | missense variant | benign |
| rs143665827 | 1:114,394,690 | G/A | — | uncertain significance |
| rs371652939 | 1:114,397,108 | C/T | — | uncertain significance |
| rs1258527426 | 1:114,397,144 | C/G | — | uncertain significance |
| rs2526163754 | 1:114,397,591 | C/G | — | uncertain significance |
| rs558134427 | 1:114,397,608 | T/C | — | uncertain significance |
| rs1180891224 | 1:114,397,622 | T/C | — | uncertain significance |
| rs199570322 | 1:114,397,636 | A/G | — | likely benign |
| rs201429780 | 1:114,397,664 | C/T | — | uncertain significance |
| rs3789608 | 1:114,397,788 | C/T | upstream gene variant | — |
| rs2526185938 | 1:114,399,050 | C/G | — | uncertain significance |
| rs373794502 | 1:114,399,188 | G/A | — | likely benign |
| rs1444555733 | 1:114,399,228 | C/T | — | uncertain significance |
| rs577768293 | 1:114,401,620 | G/A | — | likely benign |
| rs1011039090 | 1:114,401,675 | G/A | — | likely benign |
| rs754156386 | 1:114,401,689 | G/A | — | uncertain significance |
| rs72650669 | 1:114,401,704 | T/C | — | likely benign |
| rs61745743 | 1:114,402,023 | A/G | — | benign |
| rs1184056346 | 1:114,402,079 | G/T | — | uncertain significance |
| rs2243471 | 1:114,406,002 | G/A | intron variant | — |
| rs1217414 | 1:114,412,667 | G/A | intron variant | — |
| rs3789612 | 1:114,414,108 | C/T | regulatory region variant | — |
| rs2488457 | 1:114,415,368 | G/C | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.