STAT6

signal transducer and activator of transcription 6

Summary

The protein encoded by this gene is a member of the STAT family of transcription factors. 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 plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Known Variants62 total

rsidPosition (GRCh37)AllelesClassClinVar
rs70381712:57,489,828C/G——
rs32401512:57,490,100T/Cregulatory region variant—
rs75238234212:57,490,417G/A—uncertain significance
rs14027316612:57,490,491G/T—likely benign
rs13801145412:57,490,728A/G—likely benign
rs254801398612:57,490,730C/T—uncertain significance
rs254801433312:57,490,869A/G—uncertain significance
rs100424446812:57,490,914G/A—uncertain significance
rs302497512:57,491,863G/Adownstream gene variant—
rs20006963312:57,492,293G/A—benign
rs14765522212:57,492,307C/T—conflicting classifications of pathogenicity
rs302497412:57,492,745G/Adownstream gene variant—
rs84171812:57,492,996G/Adownstream gene variant—
rs254801840812:57,493,116T/C—uncertain significance
rs77774698612:57,493,148C/T—uncertain significance
rs89880572712:57,493,149G/A—uncertain significance
rs37367945712:57,493,158C/T—uncertain significance
rs76894956812:57,493,220G/C—uncertain significance
rs302497212:57,493,541T/G—likely benign
rs254801932712:57,493,564A/G—uncertain significance
rs254801935512:57,493,576A/G—uncertain significance
rs3518239012:57,493,602G/A—likely benign
rs302497112:57,493,727T/Gdownstream gene variant—
rs91555723212:57,493,797C/T—uncertain significance
rs254801979112:57,493,831C/G—pathogenic
rs104604829112:57,493,871C/A—uncertain significance
rs140396699612:57,496,077T/C—uncertain significance
rs254802456712:57,496,083T/A—uncertain significance
rs76072101412:57,496,188T/C—uncertain significance
rs53311199412:57,496,273C/T—uncertain significance
rs1117210112:57,496,615C/T—likely benign
rs14453086412:57,496,651G/T—likely benign
rs254802566612:57,496,661T/C—pathogenic
rs1117210212:57,496,662C/A—pathogenic
rs14770404112:57,496,710G/A—benign
rs20101100212:57,498,220T/Cintron variant—
rs136270702912:57,498,306C/T—uncertain significance
rs254802881912:57,498,315C/G—pathogenic
rs254802886112:57,498,345C/T—pathogenic
rs203416696612:57,498,525G/A—uncertain significance
rs78153917112:57,498,561G/A—uncertain significance
rs5582578512:57,498,924T/C—benign
rs15095617412:57,498,971G/A—uncertain significance
rs159256721012:57,498,987C/T—likely benign
rs11801443812:57,499,258C/T—benign
rs254803061912:57,499,309T/G—uncertain significance
rs121955433112:57,499,329G/A—uncertain significance
rs13860455712:57,499,995C/T—uncertain significance
rs77611609712:57,500,113T/C—uncertain significance
rs37400396012:57,500,525C/G—uncertain significance
rs76864165312:57,500,551G/A—uncertain significance
rs76660038612:57,500,610C/T—likely benign
rs89800403912:57,500,611G/A—uncertain significance
rs116552913712:57,501,020C/T—uncertain significance
rs48335272312:57,501,075A/C—uncertain significance
rs14424936012:57,501,080G/T—uncertain significance
rs203435774812:57,501,432G/C—uncertain significance
rs14147615112:57,501,508G/A—likely benign
rs75743077812:57,501,513C/T—uncertain significance
rs32401112:57,502,182C/A——
rs16776912:57,503,775C/Tintron variant—
rs302494412:57,505,448C/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.