Entrez gene ID | | 26191 |
Official gene symbol | | PTPN22 |
Full name | | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
Aliases | | ,LYP,LYP1,LYP2,PEP,PTPN8, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p13.3-p13.1 |
Gene position | | 114414375 - 114356433 Map Viewer |
Gene orientation | | minus |
Gene size | | 57943 bp |
Gene sequence |
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OMIM ID | | 600716 |