Aliases for PTPN22 Gene
External Ids for PTPN22 Gene
Previous HGNC Symbols for PTPN22 Gene
Previous GeneCards Identifiers for PTPN22 Gene
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]
GeneCards Summary for PTPN22 Gene
PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22) is a Protein Coding gene. Diseases associated with PTPN22 include rheumatoid arthritis and systemic lupus erythematosus. Among its related pathways are PAK Pathway and CTLA4 Signaling. GO annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRO.
UniProtKB/Swiss-Prot for PTPN22 Gene
Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating Tyr-394 residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating Tyr-493 residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).