Disease-gene associations mined from literature

Literature associating PTPN22 and celiac disease

PTPN22 [ENSP00000352833]

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid); 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. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr- 493' residue. Dephosphorylates the immune system activator SKAP2. Positively regulates toll-like receptor (TLR)-induced type 1 interferon production. Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro- inflammatory cytokine secretion and autophagy; Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.

Synonyms:  PTPN22,  PTPN22p,  hPTPN22,  E9PM87,  E9PMK2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM