STAT3

signal transducer and activator of transcription 3

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. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]

Known Variants659 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605293117:40,465,508C/A—uncertain significance
rs105302317:40,465,616T/Cregulatory region variantbenign
rs88605293217:40,465,619G/A—uncertain significance
rs53176048717:40,465,761C/T—uncertain significance
rs147571615317:40,465,793T/C—uncertain significance
rs13832679917:40,465,832T/C—benign
rs124035970417:40,465,872G/A—uncertain significance
rs105300517:40,465,910T/Cregulatory region variantbenign
rs88605293317:40,465,913G/A—uncertain significance
rs88605293417:40,466,088A/G—uncertain significance
rs88605293517:40,466,090G/A—uncertain significance
rs105300417:40,466,092G/Aregulatory region variantbenign
rs105588599517:40,466,118G/A—uncertain significance
rs7545484417:40,466,246C/T—benign
rs19071093917:40,466,266C/T—uncertain significance
rs88605293617:40,466,348G/C—uncertain significance
rs18329386517:40,466,380C/G—benign
rs374448317:40,466,438T/C—benign
rs55212398517:40,466,447T/C—benign
rs88605293717:40,466,493G/A—uncertain significance
rs88605293817:40,466,497C/T—uncertain significance
rs19312679817:40,466,567A/G—uncertain significance
rs37736407217:40,466,638C/T—benign
rs18403072117:40,466,681C/T—uncertain significance
rs132154548417:40,466,752T/C—uncertain significance
rs53764098117:40,466,868T/C—uncertain significance
rs55563703017:40,467,033C/T—benign
rs13899896017:40,467,094G/A—benign
rs88605293917:40,467,117A/G—uncertain significance
rs208120358517:40,467,155T/C—uncertain significance
rs96940728917:40,467,156G/A—uncertain significance
rs140545392317:40,467,169C/T—uncertain significance
rs1107904217:40,467,179A/C—benign
rs11509002617:40,467,181T/A—benign
rs18679853917:40,467,361C/T—benign
rs88605294017:40,467,503C/T—uncertain significance
rs4128908717:40,467,552G/T—benign
rs93013782217:40,467,598A/C—uncertain significance
rs37410712417:40,467,732G/A—likely benign
rs214460605117:40,467,767A/G—uncertain significance
rs137279682017:40,467,768T/C—uncertain significance
rs208122143717:40,467,769G/C—likely benign
rs56869506417:40,467,772G/A—likely benign
rs119167633317:40,467,773G/A—uncertain significance
rs95526868417:40,467,775G/A—likely benign
rs18399690417:40,467,777T/C—benign
rs124390002417:40,467,778A/G—likely benign
rs94853790617:40,467,779G/A—conflicting classifications of pathogenicity
rs77948555817:40,467,780C/T—likely benign
rs14524402417:40,467,781G/A—benign
rs77376601517:40,467,782C/T—benign
rs14720252517:40,467,787C/T—likely benign
rs14060447317:40,467,788G/A—likely benign
rs14223679217:40,467,795A/G—likely benign
rs214460650517:40,467,799C/T—uncertain significance
rs214460654617:40,467,805A/C—uncertain significance
rs214460656817:40,467,807A/G—uncertain significance
rs75224882117:40,467,808G/A—likely benign
rs250910045617:40,467,810T/A—uncertain significance
rs250910052517:40,467,820T/C—uncertain significance
rs250910063917:40,467,826G/C—likely benign
rs76399760917:40,467,832C/T—likely benign
rs1788236917:40,467,999G/T—benign
rs989186717:40,468,489G/A—benign
rs11440161817:40,468,776T/C—likely benign
rs208126917717:40,468,807C/T—uncertain significance
rs138265706917:40,468,814C/T—likely benign
rs214461756817:40,468,816C/G—uncertain significance
rs15103321417:40,468,836C/A—conflicting classifications of pathogenicity
rs77844550617:40,468,841A/G—conflicting classifications of pathogenicity
rs88605294117:40,468,848T/C—uncertain significance
rs74622196717:40,468,864A/G—conflicting classifications of pathogenicity
rs76937286517:40,468,890G/A—benign
rs76809977017:40,468,901G/C—likely benign
rs119602701617:40,468,911C/T—uncertain significance
rs86931289217:40,468,917G/Amissense variantpathogenic
rs250911355917:40,468,935G/A—likely benign
rs77292573117:40,468,936G/A—likely benign
rs4554003317:40,469,126A/G—likely benign
rs806911517:40,469,180G/A—benign
rs208128665717:40,469,191G/C—uncertain significance
rs208128691217:40,469,193C/T—likely benign
rs214462262017:40,469,199C/T—conflicting classifications of pathogenicity
rs106479495717:40,469,200G/Amissense variantpathogenic
rs250911783617:40,469,202T/G—likely benign
rs208128719517:40,469,203G/A—pathogenic
rs214462270217:40,469,206A/G—uncertain significance
rs250911789717:40,469,207C/A—pathogenic
rs19392272217:40,469,210A/Gmissense variantpathogenic
rs159838112117:40,469,212A/C—likely pathogenic
rs113169193717:40,469,213T/C—likely pathogenic
rs155556236417:40,469,219T/C—likely pathogenic
rs214462290617:40,469,221G/C—likely pathogenic
rs159838116917:40,469,225T/C—conflicting classifications of pathogenicity
rs113169147617:40,469,227A/G—pathogenic
rs214462298717:40,469,228G/T—pathogenic
rs250911822817:40,469,230T/C—likely pathogenic
rs208128841017:40,469,231A/G—likely pathogenic
rs86931289417:40,469,237C/Tmissense variantpathogenic
rs74766738917:40,469,240C/T—likely benign

Showing 100 of 659 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.