APC2

APC regulator of Wnt signaling pathway 2

Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

Known Variants757 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11353425919:1,450,085C/T—likely benign
rs76341246919:1,453,012C/T—likely benign
rs20089797619:1,453,017C/T—likely benign
rs75554891219:1,453,018G/A—likely benign
rs14736214419:1,453,024C/T—likely benign
rs74755136119:1,453,063G/C—uncertain significance
rs251245940619:1,453,092A/C—uncertain significance
rs77667918319:1,453,093C/G—uncertain significance
rs76987254519:1,453,129G/A—likely benign
rs52897719919:1,453,132G/A—likely benign
rs13947559819:1,453,134G/C—uncertain significance
rs7351680819:1,453,160G/A—benign
rs74991272219:1,453,226C/T—likely benign
rs75805553319:1,453,235C/T—likely benign
rs142982995019:1,453,269A/G—likely benign
rs92244363919:1,453,289G/A—uncertain significance
rs86772858019:1,453,304C/T—uncertain significance
rs119978865619:1,453,306G/A—uncertain significance
rs7847690219:1,453,308G/A—benign
rs14439149319:1,453,313C/T—conflicting classifications of pathogenicity
rs77125213119:1,453,314G/A—likely benign
rs57232421519:1,453,342C/T—benign
rs142654652019:1,453,343G/C—likely benign
rs76118541019:1,453,354C/A—likely benign
rs54073538019:1,453,419C/T—likely benign
rs20159273519:1,453,420G/A—likely benign
rs11354998519:1,453,424A/T—likely benign
rs75368255419:1,453,445T/A—uncertain significance
rs7627119419:1,453,453C/T—benign
rs101910840719:1,453,475C/T—uncertain significance
rs251246244319:1,453,485G/A—likely benign
rs20082434919:1,453,490C/T—uncertain significance
rs13984107419:1,453,491G/A—likely benign
rs77384915619:1,453,494G/A—likely benign
rs77173427119:1,453,500C/T—likely benign
rs76373304219:1,453,504C/T—uncertain significance
rs86599665019:1,453,511C/T—uncertain significance
rs37380893019:1,453,519A/C—likely benign
rs36756394019:1,453,520G/T—likely benign
rs208377221519:1,453,529A/G—uncertain significance
rs15095946819:1,453,531G/A—likely benign
rs77830287119:1,453,537G/A—uncertain significance
rs76173831319:1,453,570C/T—uncertain significance
rs147977278219:1,453,571G/A—uncertain significance
rs140156582219:1,453,574C/G—uncertain significance
rs75137909219:1,453,604G/A—uncertain significance
rs19992601019:1,453,621G/A—likely benign
rs208377472219:1,453,625G/A—likely benign
rs1298582719:1,453,705T/C—benign
rs14329526519:1,455,153T/C—likely benign
rs77429708219:1,455,163T/C—likely benign
rs123699736919:1,455,205T/G—likely benign
rs134637187119:1,455,215G/C—uncertain significance
rs14007985519:1,455,217C/T—likely benign
rs75089918019:1,455,223C/T—likely benign
rs94841785119:1,455,228G/A—uncertain significance
rs102488034919:1,455,235C/T—likely benign
rs159913488719:1,455,244G/A—likely benign
rs75231123519:1,455,246A/C—uncertain significance
rs37085442519:1,455,264G/T—likely benign
rs143218683219:1,455,368G/T—likely benign
rs75830350319:1,455,370C/T—likely benign
rs139817504919:1,455,376T/C—likely benign
rs76867879119:1,455,390C/T—uncertain significance
rs14988645219:1,455,424G/C—uncertain significance
rs115841284319:1,455,443C/T—uncertain significance
rs251247048519:1,455,459A/G—uncertain significance
rs92431252119:1,455,474C/G—uncertain significance
rs37751452719:1,456,055C/A—likely benign
rs124312608419:1,456,058C/G—likely benign
rs37435748119:1,456,066C/T—likely benign
rs208382003019:1,456,075A/G—uncertain significance
rs207150218519:1,456,082C/T—uncertain significance
rs208382057719:1,456,100T/C—likely pathogenic
rs251247449219:1,456,111C/A—uncertain significance
rs265686819:1,456,114C/T—benign
rs6173560919:1,456,119G/A—likely benign
rs8014279319:1,456,122G/T—likely benign
rs75609136719:1,456,132G/A—uncertain significance
rs251247467419:1,456,139A/C—uncertain significance
rs135064381619:1,456,157C/T—uncertain significance
rs135387755319:1,456,161T/G—likely benign
rs251247484119:1,456,166C/A—likely benign
rs20107836219:1,456,289G/C—likely benign
rs13883089219:1,456,316G/A—likely benign
rs77392632819:1,456,317G/A—uncertain significance
rs159913704119:1,456,324C/A—pathogenic
rs55585866119:1,456,344C/T—uncertain significance
rs208382642019:1,456,356G/A—uncertain significance
rs14240293219:1,456,368C/G—benign
rs136406652319:1,456,381C/T—uncertain significance
rs14657946819:1,456,383C/A—uncertain significance
rs36770854219:1,456,391G/A—likely benign
rs75314642719:1,456,397C/T—likely benign
rs251247608519:1,456,423G/A—likely benign
rs75975833619:1,456,834A/G—likely benign
rs96306523819:1,456,844C/T—likely benign
rs123474571819:1,456,854G/T—likely benign
rs20034763419:1,456,884G/A—conflicting classifications of pathogenicity
rs95158223719:1,456,892G/A—uncertain significance

Showing 100 of 757 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.