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PTPN22

From SNPedia
is agene
is mentioned by
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
rs12173880113,821,854
rs12174070113,851,126
rs12174130113,815,128
rs12174140113,870,045
rs12376820113,821,482
rs12730735113,838,835
rs127604570113,847,126
rs13101820113,830,881
rs15999710113,834,471
rs2243471113,863,380
rs24765990113,820,837
rs24766013.2113,834,946
rs24884571.7113,872,746
rs27974150113,834,471
rs339966491.6113,852,067
rs37619350113,829,906
rs37655980113,851,841
rs37896080113,855,166
rs37896120113,871,486
rs38110210113,814,041
rs9744040113,839,403


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.