BMP7

bone morphogenetic protein 7

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]

Known Variants96 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11755390220:55,744,431C/T3 prime UTR variant—
rs146334038720:55,746,068C/T—uncertain significance
rs14100405020:55,746,096G/A—benign
rs251598696720:55,746,107T/G—uncertain significance
rs198380525620:55,746,115G/A—uncertain significance
rs14863287020:55,746,155T/C—uncertain significance
rs1698079920:55,746,316T/C—benign
rs7391410720:55,748,064C/T—benign
rs214832820:55,748,206G/A—benign
rs15114143520:55,748,298G/A—likely benign
rs74834707720:55,748,312C/A—uncertain significance
rs37297392320:55,748,353G/A—uncertain significance
rs13946548120:55,748,358G/A—benign
rs602542220:55,749,781G/A—benign
rs11476108220:55,749,981C/T—benign
rs251598989620:55,750,001C/T—uncertain significance
rs99405122520:55,750,036G/C—uncertain significance
rs75452056920:55,750,037C/A—uncertain significance
rs20082569020:55,750,049C/T—uncertain significance
rs6173343820:55,750,060T/C—benign
rs218243520:55,750,204G/T—benign
rs7673749220:55,758,562C/T—benign
rs1343311320:55,758,592A/G—benign
rs607001520:55,758,655A/G—benign
rs7744075220:55,758,724A/G—likely benign
rs18379291820:55,758,791C/T—benign
rs77063402120:55,758,829G/A—uncertain significance
rs54053306820:55,758,836G/C—uncertain significance
rs14171642920:55,758,852C/T—uncertain significance
rs76125413620:55,758,855G/A—uncertain significance
rs76218236720:55,758,869G/A—likely benign
rs251599727720:55,758,870C/T—uncertain significance
rs76554399020:55,758,879A/G—uncertain significance
rs75865693920:55,758,885G/A—uncertain significance
rs56054021920:55,758,889C/T—benign
rs6173343620:55,758,929C/T—benign
rs77971036520:55,758,950C/T—likely benign
rs602542920:55,759,048T/C—benign
rs602543020:55,759,157T/C—benign
rs5720014320:55,777,351T/C—benign
rs11234425720:55,777,539G/A—uncertain significance
rs14552749320:55,777,548G/A—uncertain significance
rs198464553020:55,777,570G/A—uncertain significance
rs11672078620:55,777,573G/A—uncertain significance
rs77124271220:55,777,600T/C—uncertain significance
rs76429292720:55,777,635G/A—uncertain significance
rs76701145020:55,777,651G/A—uncertain significance
rs11467104920:55,777,684G/A—benign
rs74832120:55,777,796C/T—likely benign
rs612797220:55,797,057G/T—benign
rs23021820:55,797,797A/T——
rs481182720:55,798,240C/Tintron variant—
rs1698491920:55,803,109C/T—benign
rs735274120:55,803,149C/T—benign
rs75899452420:55,803,271C/T—likely benign
rs4127473820:55,803,299C/T—benign
rs78150576820:55,803,304G/A—uncertain significance
rs13959245920:55,803,323C/A—benign
rs77623089220:55,803,346G/C—uncertain significance
rs76463358420:55,803,352G/A—uncertain significance
rs121855954120:55,803,371C/A—likely benign
rs147678771620:55,803,373G/A—pathogenic
rs11165676920:55,803,380G/A—likely benign
rs20222703220:55,803,418G/C—uncertain significance
rs14983619020:55,803,440G/A—benign
rs20157555920:55,803,447C/T—uncertain significance
rs1740430320:55,803,687C/T—benign
rs54399724520:55,807,277A/G——
rs18666020:55,816,126T/Cintron variant—
rs607003420:55,817,035C/Gintron variant—
rs612798320:55,824,475T/Cintron variant—
rs18278420:55,824,533A/Gintron variant—
rs612798420:55,824,593G/C——
rs607003520:55,825,693A/Gintron variant—
rs811625920:55,826,168A/Gintron variant—
rs14443440420:55,837,263C/Tupstream gene variant—
rs11649414420:55,840,478C/A—benign
rs812259620:55,840,534C/T—benign
rs11703865620:55,840,589T/G—likely benign
rs14442219820:55,840,766T/C—uncertain significance
rs97678876720:55,840,833G/A—uncertain significance
rs75589516120:55,840,845T/C—uncertain significance
rs77692147620:55,840,899C/T—uncertain significance
rs6173343420:55,840,900C/T—benign
rs206617529720:55,840,910A/C—uncertain significance
rs77761018720:55,840,924G/T—uncertain significance
rs214603600120:55,840,925T/A—pathogenic
rs74554811120:55,840,950T/C—uncertain significance
rs53622001920:55,841,018A/G—uncertain significance
rs118666382320:55,841,022C/T—uncertain significance
rs76645701720:55,841,032C/T—likely benign
rs102140817020:55,841,143G/C—uncertain significance
rs76826825720:55,841,323C/T—likely benign
rs11339318620:55,841,324G/A—likely benign
rs11147725920:55,841,541G/A—benign
rs7880804920:55,841,957C/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.