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PTPN22

From SNPedia

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Full nameprotein tyrosine phosphatase, non-receptor type 22 (lymphoid)
EntrezGene26191
PheGenI26191
VariationViewer26191
ClinVarPTPN22
GeneCardsPTPN22
dbSNP26191
DiseasesPTPN22
SADR26191
HugeNav26191
wikipediaPTPN22
googlePTPN22
gopubmedPTPN22
EVSPTPN22
HEFalMpPTPN22
MyGene2PTPN22
23andMePTPN22
UniProtQ9Y2R2
EnsemblENSG00000134242
OMIM600716
# SNPs21
 Max MagnitudeChromosome positionSummary
rs1217388113,821,854
rs1217407113,851,126
rs1217413113,815,128
rs1217414113,870,045
rs1237682113,821,482
rs12730735113,838,835
rs12760457113,847,126
rs1310182113,830,881
rs1599971113,834,471
rs2243471113,863,380
rs2476599113,820,837
rs24766013.2113,834,946
rs2488457113,872,746
rs2797415113,834,471
rs339966490113,852,067
rs3761935113,829,906
rs3765598113,851,841
rs3789608113,855,166
rs3789612113,871,486
rs3811021113,814,041
rs974404113,839,403


PTPN22 belongs to a family of genes encoding protein tyrosine phosphatases (PTPs). PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. The 1858C>T polymorphism in the SNP rs2476601 within this gene is associated with significant risk for multiple autoimmune diseases and infectious diseases.


[PMID 25003765OA-icon.png] PTPN22: the archetypal non-HLA autoimmunity gene. A 2014 article explained that "PTPN22 exemplifies a shared autoimmunity gene, affecting the pathogenesis of systemic lupus erythematosus, vasculitis and other autoimmune diseases." They explored "the role of PTPN22 in autoimmune connective tissue disease" and theorized "a number of PTPN22-dependent functional models of the pathogenesis of autoimmune diseases." (Abstract). They explained that "the PTPN22 gene is a major risk factor for autoimmunity." As well, "In addition to autoimmune diseases, PTPN22 1858C>T also affects susceptibility to infectious diseases."


See the SNP rs2476601 page for more information and references.