TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

Summary

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants239 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7279796:149,593,920C/Tintron variant—
rs93772056:149,596,374A/G——
rs94853706:149,606,801G/Tregulatory region variant—
rs94853726:149,608,874G/Aupstream gene variant—
rs94982906:149,609,420C/Tupstream gene variant—
rs69063846:149,664,540G/C——
rs5658256:149,690,725A/C—benign
rs355071566:149,690,737A/G—benign
rs353758296:149,690,807G/A—likely benign
rs24833479456:149,691,143G/A—uncertain significance
rs7630617416:149,691,150A/G—uncertain significance
rs8789618266:149,691,151C/T—likely benign
rs5530083316:149,691,154A/G—likely benign
rs7517876796:149,691,155A/G—uncertain significance
rs7576409036:149,691,158G/A—uncertain significance
rs7508871966:149,691,183G/A—uncertain significance
rs24833484486:149,691,215G/A—uncertain significance
rs24833485196:149,691,222G/A—uncertain significance
rs3701263666:149,691,247A/G—likely benign
rs7467056756:149,691,249G/A—likely benign
rs7706919396:149,691,252T/G—likely benign
rs65709636:149,691,355T/G—benign
rs69161346:149,698,902G/T—benign
rs77529476:149,699,016A/T—benign
rs14462873276:149,699,142T/C—likely benign
rs15542631586:149,699,154A/G—uncertain significance
rs9196564826:149,699,155A/G—uncertain significance
rs17814625366:149,699,170A/T—uncertain significance
rs7709195306:149,699,189C/T—likely benign
rs3767977136:149,699,196G/A—uncertain significance
rs1432134786:149,699,207A/G—conflicting classifications of pathogenicity
rs7754023006:149,699,216T/C—likely benign
rs7492321976:149,699,217G/A—uncertain significance
rs24833836866:149,699,254T/C—uncertain significance
rs1475253226:149,699,258T/C—likely benign
rs7676002516:149,699,265C/T—uncertain significance
rs10575184376:149,699,302C/Astop gainedpathogenic
rs21148826696:149,699,306G/C—uncertain significance
rs7555550126:149,699,310A/C—uncertain significance
rs13464290946:149,699,328G/A—uncertain significance
rs132153046:149,699,333G/A—likely benign
rs17814702676:149,699,338G/A—uncertain significance
rs17814704406:149,699,339G/C—uncertain significance
rs8932067626:149,699,348A/G—conflicting classifications of pathogenicity
rs5597717706:149,699,362C/T—conflicting classifications of pathogenicity
rs12008849816:149,699,375T/C—likely benign
rs21148830206:149,699,383A/G—uncertain significance
rs1442472846:149,699,384A/C—uncertain significance
rs24833850096:149,699,395G/T—uncertain significance
rs17814732816:149,699,402C/T—likely benign
rs2017162236:149,699,403A/T—uncertain significance
rs9951697016:149,699,406A/G—uncertain significance
rs1168510686:149,699,426G/A—benign
rs24833853196:149,699,430C/T—pathogenic
rs7557895706:149,699,439C/G—uncertain significance
rs12242467276:149,699,448G/A—uncertain significance
rs3689260016:149,699,452C/T—uncertain significance
rs10575179346:149,699,454C/Tstop gainedpathogenic
rs7719750836:149,699,482G/C—uncertain significance
rs1508526376:149,699,489T/C—likely benign
rs21148835766:149,699,497C/G—pathogenic
rs12968702846:149,699,513T/G—uncertain significance
rs1398978446:149,699,523C/T—conflicting classifications of pathogenicity
rs7757954986:149,699,524A/G—uncertain significance
rs24833861256:149,699,525C/T—likely benign
rs24833865026:149,699,551T/A—uncertain significance
rs9625202656:149,699,558A/G—likely benign
rs24833865746:149,699,559C/T—pathogenic
rs7499692606:149,699,560A/G—uncertain significance
rs14132841226:149,699,569G/A—uncertain significance
rs24833868186:149,699,599C/T—likely pathogenic
rs24833868356:149,699,601A/G—uncertain significance
rs7547205516:149,699,616C/T—uncertain significance
rs3690276976:149,699,617G/A—uncertain significance
rs7525180886:149,699,628A/G—uncertain significance
rs7584315346:149,699,639C/T—conflicting classifications of pathogenicity
rs1151689156:149,699,648T/G—likely benign
rs14061221486:149,699,668A/G—uncertain significance
rs2676071016:149,699,673C/Tmissense variantpathogenic
rs7734840176:149,699,676C/A—uncertain significance
rs24833877856:149,699,680G/A—uncertain significance
rs7601612626:149,699,692A/G—uncertain significance
rs13396426616:149,699,706A/G—uncertain significance
rs14791049276:149,699,730C/T—pathogenic
rs2676071006:149,699,739C/Amissense variantpathogenic
rs7583063216:149,699,741A/G—likely benign
rs7516164266:149,699,764A/G—uncertain significance
rs24833888816:149,699,773C/A—uncertain significance
rs17814926866:149,699,776T/G—uncertain significance
rs21148849266:149,699,781C/T—uncertain significance
rs7762263416:149,699,817T/C—uncertain significance
rs798075606:149,699,822T/C—likely benign
rs17814947046:149,699,823A/G—uncertain significance
rs3685346046:149,699,825T/A—likely benign
rs7750532506:149,699,830C/T—uncertain significance
rs21148853256:149,699,865C/T—likely pathogenic
rs5419857956:149,699,878A/C—uncertain significance
rs17814974286:149,699,895C/T—uncertain significance
rs7495751896:149,699,897T/C—likely benign
rs1448744686:149,699,909A/G—likely benign

Showing 100 of 239 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.