YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

Summary

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs726617:1,248,466C/T3 prime UTR variant—
rs15083797717:1,248,753G/A—benign
rs75426221617:1,248,772G/A—uncertain significance
rs74928040317:1,257,492C/T—likely benign
rs20070583417:1,257,493G/A—likely benign
rs14315853317:1,257,530T/C—likely benign
rs14433380017:1,257,613T/C—uncertain significance
rs75553985217:1,257,650A/G—likely benign
rs1165517617:1,264,198G/C—benign
rs7328854417:1,264,321G/A—benign
rs18840117317:1,264,418G/A—likely benign
rs13921580417:1,264,430G/A—likely benign
rs76132458617:1,264,520G/A—likely benign
rs77008390317:1,264,529C/T—likely benign
rs254354306917:1,264,544G/A—likely benign
rs55604456317:1,264,611T/A—benign
rs20208421517:1,264,612A/T—likely benign
rs375282617:1,265,064A/Cintron variantbenign
rs37668362317:1,265,266G/A—likely benign
rs3413755617:1,265,285C/T—likely benign
rs36970242417:1,265,288T/C—likely benign
rs76435045917:1,265,305A/G—likely benign
rs54594126217:1,265,317A/T—benign
rs7397621217:1,265,318T/A—benign
rs375282717:1,265,325T/A—benign
rs721941717:1,265,512A/G—benign
rs254354581317:1,265,749G/C—uncertain significance
rs254355053117:1,268,134G/A—likely benign
rs14694465117:1,268,137G/A—likely benign
rs76192207517:1,268,170G/A—uncertain significance
rs254355068217:1,268,238C/T—likely pathogenic
rs159824355017:1,268,275C/T—uncertain significance
rs159824357917:1,268,301A/G—uncertain significance
rs254355087317:1,268,360G/A—likely benign
rs215085344917:1,268,368A/G—likely benign
rs7477610717:1,273,903T/Gintron variant—
rs11759422517:1,281,677T/Cintron variant—
rs6208795417:1,286,743A/Gintron variant—
rs1694581117:1,294,614G/Aregulatory region variant—
rs213143117:1,294,895A/Cintron variant—
rs187382717:1,300,940T/A——
rs36908811617:1,303,324T/C—likely benign
rs37421439117:1,303,329C/A—likely benign
rs142156055717:1,303,331C/G—likely benign
rs75419948817:1,303,334A/C—likely benign
rs19985674717:1,303,335A/G—likely benign
rs75581717517:1,303,372C/T—likely benign
rs15003231917:1,303,458C/G—benign
rs2836585917:1,303,778C/Gregulatory region variantbenign
rs11381930317:1,303,788C/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.