TAP2

transporter 2, ATP binding cassette subfamily B member

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]

Known Variants388 total

rsidPosition (GRCh37)AllelesClassClinVar
rs28571056:32,790,059C/T—benign
rs168709086:32,790,089G/A—benign
rs28571036:32,791,299C/Aintron variant—
rs95012246:32,792,910C/Tintron variant—
rs2414566:32,795,965G/A—benign
rs2414536:32,796,226G/Aintron variant—
rs13226246856:32,796,645C/T—uncertain significance
rs2414496:32,796,653C/A—benign
rs7589791316:32,796,660C/T—uncertain significance
rs24830097026:32,796,664A/T—uncertain significance
rs7705813056:32,796,674C/T—likely benign
rs14457275536:32,796,683C/T—likely benign
rs2414486:32,796,685A/Gintron variantbenign
rs13799145986:32,796,691G/A—uncertain significance
rs1846987116:32,796,693G/A—uncertain significance
rs12122961566:32,796,698C/T—likely benign
rs8877435156:32,796,715C/T—uncertain significance
rs7639500016:32,796,724C/T—uncertain significance
rs7732911876:32,796,739C/T—uncertain significance
rs7611380146:32,796,740G/A—likely benign
rs17688522536:32,796,745G/A—uncertain significance
rs2414476:32,796,751T/Cintron variantbenign
rs13761761356:32,796,760T/G—likely benign
rs21273519246:32,796,762T/C—uncertain significance
rs24830104216:32,796,782G/A—likely benign
rs7531265406:32,796,783C/T—uncertain significance
rs1833166636:32,796,792C/A—uncertain significance
rs41488766:32,796,793G/Aintron variantbenign
rs9420856346:32,796,797A/G—likely benign
rs14768965376:32,796,822G/A—likely benign
rs2414436:32,797,115T/Gintron variant—
rs413165486:32,797,167C/T—benign
rs2414426:32,797,168G/A—benign
rs1121989516:32,797,176C/T—uncertain significance
rs2003185796:32,797,177G/A—likely benign
rs17688928756:32,797,178G/A—uncertain significance
rs7597760826:32,797,179C/T—uncertain significance
rs7655811446:32,797,185C/A—uncertain significance
rs3696327516:32,797,186G/C—uncertain significance
rs1458946636:32,797,189C/T—benign
rs7520683106:32,797,200G/T—uncertain significance
rs15825648166:32,797,201G/A—likely benign
rs7499446866:32,797,225G/C—likely benign
rs1419265206:32,797,231C/T—likely benign
rs12472878246:32,797,232C/T—uncertain significance
rs5546673506:32,797,234C/T—likely benign
rs7788967656:32,797,241C/T—uncertain significance
rs7719322546:32,797,242G/A—pathogenic
rs7720611736:32,797,254G/A—uncertain significance
rs15825652716:32,797,257C/A—uncertain significance
rs17689048816:32,797,266G/C—uncertain significance
rs7701116576:32,797,268C/T—uncertain significance
rs9725777116:32,797,269G/A—uncertain significance
rs7633655506:32,797,272G/A—pathogenic
rs7644371706:32,797,282C/T—likely benign
rs747708126:32,797,283G/A—likely benign
rs2414416:32,797,297T/C—benign
rs22295276:32,797,309T/G—benign
rs7556586206:32,797,313T/A—uncertain significance
rs3744764506:32,797,699G/A—likely benign
rs14572171766:32,797,709G/T—uncertain significance
rs9790879446:32,797,716T/C—uncertain significance
rs3712452426:32,797,721T/C—uncertain significance
rs1471504156:32,797,726C/T—uncertain significance
rs7622664766:32,797,733T/C—uncertain significance
rs7737553406:32,797,735G/T—likely benign
rs790981506:32,797,747T/C—benign
rs7533933216:32,797,749C/T—uncertain significance
rs1445439186:32,797,750G/A—likely benign
rs21273539336:32,797,753G/A—likely benign
rs7649737126:32,797,760T/C—conflicting classifications of pathogenicity
rs1998928416:32,797,762G/C—likely benign
rs24830164596:32,797,764C/T—uncertain significance
rs7583186466:32,797,767C/T—uncertain significance
rs5433992356:32,797,768C/T—likely benign
rs783281076:32,797,769G/A—uncertain significance
rs22283916:32,797,773T/C—benign
rs14693135166:32,797,777C/T—likely benign
rs8993284716:32,797,781T/C—uncertain significance
rs14372265796:32,797,782C/T—uncertain significance
rs3700902546:32,797,788C/T—uncertain significance
rs5601002826:32,797,808G/C—uncertain significance
rs22283966:32,797,809T/C—likely benign
rs7668852226:32,797,812T/G—uncertain significance
rs7591272876:32,797,830C/T—uncertain significance
rs7647759936:32,797,831G/A—likely benign
rs14805756236:32,797,832G/C—uncertain significance
rs1510646616:32,797,847T/C—uncertain significance
rs24830172756:32,797,852C/A—likely benign
rs17689579146:32,797,867C/T—pathogenic
rs2414366:32,797,876G/A—benign
rs1384508156:32,797,878G/A—likely benign
rs24830174666:32,797,885G/A—likely benign
rs561738146:32,797,974C/Tintron variant—
rs24830182986:32,798,024T/A—likely benign
rs1852806116:32,798,026T/C—benign
rs7550058286:32,798,043C/G—likely pathogenic
rs24830185396:32,798,073G/A—pathogenic
rs17689773616:32,798,081G/T—uncertain significance
rs14595026786:32,798,082G/T—uncertain significance

Showing 100 of 388 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.