ATF6

activating transcription factor 6

Summary

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]

Known Variants391 total

rsidPosition (GRCh37)AllelesClassClinVar
rs9152118401:161,736,153G/T—pathogenic
rs8675687431:161,736,154G/C—uncertain significance
rs7787410811:161,736,157G/T—pathogenic
rs7466518241:161,736,163G/A—uncertain significance
rs21017057181:161,736,165T/C—likely benign
rs2002201301:161,736,167G/T—conflicting classifications of pathogenicity
rs7601868811:161,736,171T/C—likely benign
rs7609103291:161,736,177C/T—likely benign
rs7617791691:161,736,183G/A—uncertain significance
rs7654023741:161,736,190C/T—uncertain significance
rs5404118701:161,736,191C/A—uncertain significance
rs1128631721:161,736,197G/T—likely benign
rs352842891:161,736,209T/C—benign
rs7513613471:161,736,211C/T—uncertain significance
rs25250675711:161,736,212A/G—uncertain significance
rs5462822611:161,736,216G/A—likely benign
rs1498257321:161,736,217C/T—uncertain significance
rs7478733051:161,736,227A/G—uncertain significance
rs21017059471:161,736,233G/T—likely pathogenic
rs7970451701:161,736,237G/T—pathogenic
rs801231421:161,738,239G/Aupstream gene variant—
rs2014002821:161,748,015T/C—benign
rs7558042741:161,748,022C/A—likely benign
rs21017232991:161,748,025T/C—likely benign
rs16845635331:161,748,033G/T—likely pathogenic
rs25251084101:161,748,039G/A—uncertain significance
rs25251084621:161,748,050T/C—likely benign
rs20701511:161,748,056C/T—benign
rs14660203001:161,748,057G/A—uncertain significance
rs12901971011:161,748,074T/C—likely benign
rs1511361161:161,748,087T/C—likely benign
rs7771123221:161,748,088T/C—uncertain significance
rs563941511:161,748,100A/G—uncertain significance
rs5584588861:161,748,106C/T—uncertain significance
rs7630452111:161,748,107G/A—likely benign
rs12564522371:161,748,109A/G—uncertain significance
rs7742638061:161,748,122C/T—likely benign
rs348535981:161,748,124A/G—benign
rs12068251861:161,748,126G/A—likely benign
rs5518510421:161,751,684C/T—likely benign
rs7535962701:161,751,694A/G—uncertain significance
rs16846407431:161,751,701G/A—likely pathogenic
rs10584051:161,751,741A/Tmissense variantuncertain significance
rs25251206581:161,751,748G/A—pathogenic
rs25251206861:161,751,761T/C—likely benign
rs10059622301:161,751,764G/A—pathogenic
rs7495753061:161,751,779A/G—likely benign
rs1386079051:161,751,785T/C—likely benign
rs1447435511:161,751,787C/T—uncertain significance
rs7744986501:161,751,795T/C—uncertain significance
rs25251209711:161,751,800G/A—likely benign
rs21017282831:161,751,802T/C—likely benign
rs25251210031:161,751,804C/T—likely benign
rs13009053261:161,753,760C/T—likely benign
rs16846912801:161,753,766T/G—likely benign
rs7788184811:161,753,769A/G—likely benign
rs3737741811:161,753,771G/A—likely benign
rs7685580751:161,753,789T/C—uncertain significance
rs14576991151:161,753,801C/A—uncertain significance
rs22710131:161,753,802T/C—benign
rs10481807041:161,753,808A/G—likely benign
rs21017308991:161,753,813C/G—uncertain significance
rs16846929671:161,753,821T/C—uncertain significance
rs7625054351:161,753,832T/C—likely benign
rs25251279331:161,753,835A/C—likely benign
rs1998486471:161,753,840C/T—uncertain significance
rs22710121:161,753,841G/A—benign
rs1508723161:161,753,848C/T—uncertain significance
rs1496839551:161,753,849G/C—uncertain significance
rs16846943811:161,753,853A/G—likely benign
rs22710111:161,753,858A/G—uncertain significance
rs3714928241:161,753,865T/C—likely benign
rs3718938181:161,753,879A/G—uncertain significance
rs7800569591:161,753,880T/C—likely benign
rs16846957701:161,753,901T/A—likely benign
rs5458175091:161,761,185T/C—likely benign
rs3768219911:161,761,191G/C—likely benign
rs21017412561:161,761,194A/G—likely benign
rs3676206921:161,761,195C/T—uncertain significance
rs1414658681:161,761,203G/A—likely benign
rs12214058881:161,761,207G/T—uncertain significance
rs21017412841:161,761,210T/G—uncertain significance
rs25251523431:161,761,219A/G—uncertain significance
rs21017413181:161,761,227G/A—likely benign
rs5417359251:161,761,228A/G—benign
rs1508315461:161,761,229T/G—uncertain significance
rs7488998401:161,761,246T/C—uncertain significance
rs15711338131:161,761,247A/G—uncertain significance
rs7705175461:161,761,249G/A—uncertain significance
rs25251526551:161,761,252G/A—uncertain significance
rs21017414031:161,761,258T/G—uncertain significance
rs25251526961:161,761,261A/G—uncertain significance
rs7670527661:161,761,263T/C—likely benign
rs618012541:161,761,265G/A—uncertain significance
rs3697441521:161,761,266T/C—likely benign
rs1475738501:161,761,268T/C—conflicting classifications of pathogenicity
rs7655821021:161,761,269C/G—likely benign
rs3740937741:161,761,274C/T—uncertain significance
rs20701501:161,761,276G/Cmissense variantbenign
rs2014703701:161,761,277C/T—uncertain significance

Showing 100 of 391 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.