BRD2

bromodomain containing 2

Summary

This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]

Known Variants75 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1152497876:32,935,148G/Aregulatory region variant—
rs39181496:32,936,373G/Aregulatory region variant—
rs92769356:32,936,441T/A——
rs3756935176:32,938,010A/Gcoding sequence variant—
rs1405665486:32,940,694C/T—uncertain significance
rs7752072076:32,940,700A/G—uncertain significance
rs8643095916:32,942,244C/T—uncertain significance
rs7488498866:32,942,250A/C—uncertain significance
rs7769069576:32,942,262G/C—uncertain significance
rs37525286:32,942,264T/C—benign
rs556505026:32,942,277G/A—benign
rs5165356:32,942,302A/G—benign
rs11616291016:32,942,352T/C—uncertain significance
rs1380973636:32,942,386C/A—benign
rs1151200986:32,942,410C/T—benign
rs7500515916:32,942,431A/G—likely benign
rs3757913866:32,942,494C/T—likely benign
rs562274436:32,943,088A/Tdownstream gene variant—
rs6356886:32,943,151T/C—benign
rs7796306546:32,943,225A/G—uncertain significance
rs761463826:32,943,229T/C—benign
rs5712051646:32,943,286C/T—likely benign
rs3753127586:32,943,803C/T—likely benign
rs7776009756:32,943,808C/G—uncertain significance
rs7708137796:32,943,821T/C—uncertain significance
rs1998219346:32,943,825C/T—likely benign
rs1479653956:32,944,023C/G—benign
rs7502775126:32,944,028G/A—likely benign
rs1862770396:32,944,037C/T—benign
rs1762506:32,944,128C/T—benign
rs1413775906:32,944,142C/T—likely benign
rs7692535786:32,944,164C/T—uncertain significance
rs13602460886:32,944,191C/T—uncertain significance
rs11694251796:32,944,200C/T—uncertain significance
rs13883425296:32,944,204C/T—uncertain significance
rs7721800486:32,944,333C/T—likely benign
rs3742846776:32,944,347C/T—likely benign
rs7647040896:32,944,396G/T—uncertain significance
rs7654111666:32,944,441G/A—uncertain significance
rs1391567096:32,944,447C/T—uncertain significance
rs17788077466:32,944,451T/C—uncertain significance
rs3691132386:32,944,461G/C—uncertain significance
rs14347606306:32,944,498A/G—uncertain significance
rs7643542556:32,944,662G/C—likely benign
rs25333722916:32,944,694T/A—uncertain significance
rs7542772456:32,944,701C/G—likely benign
rs1926485746:32,944,704C/T—likely benign
rs1511591856:32,944,863T/Cupstream gene variant—
rs3732887356:32,945,212T/C—likely benign
rs1410442006:32,945,244G/A—uncertain significance
rs25333830316:32,945,253A/G—uncertain significance
rs30976446:32,945,530C/G—benign
rs9264364976:32,945,579G/C—uncertain significance
rs1458499106:32,945,599C/T—likely benign
rs14572880526:32,945,604C/T—uncertain significance
rs39181436:32,945,625C/T—benign
rs557784086:32,945,719A/G—benign
rs3718135416:32,945,897C/T—likely benign
rs1913171396:32,945,923A/G—likely benign
rs345307796:32,946,029G/A—benign
rs13340776666:32,946,032G/C—uncertain significance
rs10633796:32,946,034T/C—benign
rs559521136:32,946,119G/C—benign
rs2067816:32,946,133T/C—benign
rs760881526:32,946,322G/Aregulatory region variant—
rs3684070346:32,947,782G/A—likely benign
rs7680362576:32,947,886G/A—uncertain significance
rs7761973316:32,947,895C/T—uncertain significance
rs7603694116:32,948,229C/A—uncertain significance
rs1448617476:32,948,385G/A—likely benign
rs7805905116:32,948,443C/G—uncertain significance
rs7693382226:32,948,446C/G—uncertain significance
rs11840853546:32,948,470A/G—uncertain significance
rs7518745546:32,948,486C/G—uncertain significance
rs1472699086:32,948,577G/Cregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.