CTBP2

C-terminal binding protein 2

Summary

This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

Known Variants63 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104637310:126,674,689A/G——
rs7696365410:126,678,147C/T—likely benign
rs79623094810:126,678,207G/T—likely benign
rs321390710:126,681,219G/Aregulatory region variant—
rs76458256810:126,681,793G/A—likely benign
rs14195636310:126,681,832A/G—likely benign
rs7476961010:126,681,868C/G—likely benign
rs7680435210:126,681,883C/T—benign
rs11258565810:126,682,435T/C—likely benign
rs7694996310:126,682,486T/C—likely benign
rs18581573810:126,682,516G/A—likely benign
rs75605396310:126,682,528G/A—likely benign
rs7620376810:126,683,151C/T—pathogenic
rs75541644210:126,686,553G/A—pathogenic
rs37229390510:126,686,606G/A—likely benign
rs378144210:126,690,919G/Aintron variant—
rs7607908810:126,691,538C/T—pathogenic
rs20134270910:126,694,106G/A—likely benign
rs4130361110:126,694,170T/C—benign
rs37761623210:126,694,387G/A—likely benign
rs156158910:126,695,673G/C——
rs496241610:126,696,872T/Cintron variant—
rs707727510:126,697,210T/Cintron variant—
rs1090185010:126,707,881C/Tintron variant—
rs1257182110:126,714,641G/C—benign
rs294699410:126,714,714G/C—benign
rs20060740010:126,714,718C/T—likely benign
rs7337514010:126,714,948C/T—likely benign
rs301207510:126,714,966G/A—benign
rs20061001510:126,715,018G/A—likely benign
rs7720836410:126,715,051C/T—benign
rs378141310:126,715,075C/T—benign
rs14230745110:126,715,091T/G—benign
rs18599475710:126,715,118C/T—likely benign
rs11347758510:126,715,125G/A—benign
rs706781610:126,715,136C/A—benign
rs378141210:126,715,154G/A—benign
rs20201029410:126,715,245C/G—likely benign
rs14864370710:126,715,298C/T—benign
rs20026773610:126,715,335C/T—likely benign
rs14210118510:126,715,336A/C—likely benign
rs382479610:126,715,375C/T—benign
rs378141110:126,715,436C/T—benign
rs7416331510:126,715,466G/A—likely benign
rs378141010:126,715,519G/A—benign
rs14830985910:126,715,603G/A—benign
rs378140910:126,715,629C/T—benign
rs11243310910:126,715,683C/T—benign
rs378140810:126,715,692C/T—benign
rs11640318110:126,715,693G/A—benign
rs13998486310:126,715,869G/A—likely benign
rs14346003710:126,715,878T/C—likely benign
rs11580422110:126,715,945C/T—benign
rs14576578510:126,715,970A/T—likely benign
rs14894583610:126,716,020G/A—likely benign
rs13827345810:126,716,108G/C—likely benign
rs378140610:126,716,140G/A—benign
rs14242979210:126,716,323T/C—likely benign
rs155488128210:126,727,587G/A—likely benign
rs7655543910:126,727,602T/A—benign
rs1090185410:126,733,643T/Cregulatory region variant—
rs1224644010:126,736,876C/Tregulatory region variant—
rs7682251910:126,809,715C/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.