STAT2

signal transducer and activator of transcription 2

Summary

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]

Known Variants411 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1157524812:56,735,990G/Tdownstream gene variant—
rs213603162012:56,737,186G/A—uncertain significance
rs77290784612:56,737,190T/C—uncertain significance
rs254723834412:56,737,192A/C—uncertain significance
rs76048059012:56,737,193A/G—likely benign
rs187685870612:56,737,196G/T—uncertain significance
rs135684384912:56,737,204G/T—uncertain significance
rs75925431812:56,737,222C/T—uncertain significance
rs75219265812:56,737,223G/A—uncertain significance
rs75086273712:56,737,227G/C—likely benign
rs20155167112:56,737,229C/T—conflicting classifications of pathogenicity
rs37671696412:56,737,236C/T—likely benign
rs75512751312:56,737,238C/T—uncertain significance
rs14422106412:56,737,244C/T—uncertain significance
rs222936312:56,737,251C/A—benign
rs11308364412:56,737,255C/T—uncertain significance
rs6175417012:56,737,256C/A—likely benign
rs6175417112:56,737,257A/G—benign
rs37247422812:56,737,278C/T—likely benign
rs76859380512:56,737,279G/A—uncertain significance
rs77375235912:56,737,283T/G—uncertain significance
rs254723859712:56,737,284G/A—likely benign
rs53600356712:56,737,319G/A—likely benign
rs254723936212:56,737,595A/G—likely benign
rs37664766012:56,737,619C/T—likely benign
rs213603330012:56,737,645A/C—uncertain significance
rs20095484812:56,737,649C/T—likely benign
rs37119010112:56,737,670C/G—uncertain significance
rs146921423512:56,737,678C/T—uncertain significance
rs54087819912:56,737,686T/C—conflicting classifications of pathogenicity
rs131167119412:56,737,699G/A—uncertain significance
rs119197309012:56,737,706T/C—likely benign
rs213603362812:56,737,723G/C—uncertain significance
rs144708776012:56,737,736C/T—likely benign
rs76424266412:56,737,738C/T—uncertain significance
rs213603371112:56,737,751G/A—likely benign
rs75724604112:56,737,753A/G—uncertain significance
rs74577681012:56,737,757C/T—likely benign
rs99392591612:56,737,772C/T—likely benign
rs187696962012:56,737,778C/A—likely benign
rs77999036212:56,737,783G/T—uncertain significance
rs76047082012:56,737,786C/G—uncertain significance
rs77393657212:56,737,796C/T—likely benign
rs133714868312:56,737,810C/G—uncertain significance
rs254723991812:56,737,814G/A—likely benign
rs74757219812:56,737,815T/G—uncertain significance
rs76558770512:56,737,826C/G—uncertain significance
rs254723997012:56,737,830G/T—uncertain significance
rs95503031212:56,737,831G/A—uncertain significance
rs37469753212:56,737,841C/T—likely benign
rs14661839212:56,737,846C/T—uncertain significance
rs91899514912:56,737,853C/T—likely benign
rs147557194612:56,737,859T/C—likely benign
rs75045235412:56,737,870G/A—likely benign
rs14017409212:56,737,895C/T—likely benign
rs14487847812:56,737,906G/A—likely benign
rs187699401212:56,737,908T/C—uncertain significance
rs18906311712:56,737,913C/T—likely benign
rs77270903312:56,737,936A/G—likely benign
rs74638410612:56,737,938A/G—likely benign
rs134243735212:56,737,939C/A—likely benign
rs206680812:56,737,973A/Gdownstream gene variant—
rs11158040512:56,739,557A/Gintron variant—
rs123206890112:56,739,921A/G—likely benign
rs76638107412:56,739,923A/C—likely benign
rs36800263312:56,739,933T/C—uncertain significance
rs20091887412:56,739,953G/C—uncertain significance
rs119680704012:56,739,972C/T—uncertain significance
rs74648004212:56,739,973G/A—uncertain significance
rs77039420412:56,739,979G/T—uncertain significance
rs187742743612:56,739,982G/C—uncertain significance
rs129115952712:56,739,996A/C—uncertain significance
rs187743147512:56,740,000T/C—likely benign
rs254724379012:56,740,001A/G—likely benign
rs77470940312:56,740,002T/C—likely benign
rs143257615012:56,740,211G/A—likely benign
rs75248381612:56,740,216C/T—likely benign
rs20044466112:56,740,217G/A—likely benign
rs11363194712:56,740,234T/C—uncertain significance
rs159246717612:56,740,240T/C—uncertain significance
rs254724446412:56,740,251A/G—likely benign
rs133034224412:56,740,262G/A—uncertain significance
rs19952806212:56,740,266G/C—uncertain significance
rs20060641612:56,740,270C/T—uncertain significance
rs156564860812:56,740,271G/A—pathogenic
rs77361891712:56,740,285C/T—uncertain significance
rs74722318712:56,740,286G/A—uncertain significance
rs254724459212:56,740,300G/C—uncertain significance
rs36998610912:56,740,301G/A—uncertain significance
rs254724460512:56,740,305A/G—likely benign
rs14903728212:56,740,306T/G—uncertain significance
rs213604312412:56,740,307T/G—uncertain significance
rs76386255812:56,740,334G/A—uncertain significance
rs75127918312:56,740,348A/G—uncertain significance
rs76435955412:56,740,350C/T—likely benign
rs75216781912:56,740,362C/T—likely benign
rs127871936412:56,740,367C/T—uncertain significance
rs74990099912:56,740,374C/T—likely benign
rs14305958912:56,740,375G/A—uncertain significance
rs11127476812:56,740,380C/T—likely benign

Showing 100 of 411 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.