BMPR1B

bone morphogenetic protein receptor type 1B

Summary

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Known Variants332 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10195865234:95,679,115C/G—uncertain significance
rs17215924594:95,679,204G/C—uncertain significance
rs44675744:95,727,109G/Aintron variant—
rs1432301334:95,796,982G/A—uncertain significance
rs13317894894:95,796,997A/G—uncertain significance
rs1482902794:95,797,035A/G—benign
rs756972734:95,797,047T/C—benign
rs7397304:95,805,242C/Gintron variant—
rs18591564:95,834,034G/Tintron variant—
rs100213034:95,856,681G/Aintron variant—
rs5759561774:95,864,146A/G——
rs7161914:95,916,919G/Tregulatory region variant—
rs7564486124:95,917,215C/G—uncertain significance
rs7615225594:95,917,286G/T—likely benign
rs623162314:95,922,519T/A——
rs11606954:95,952,865A/Gintron variant—
rs1417728814:95,972,540G/A—likely benign
rs17265039314:95,972,736C/T—uncertain significance
rs5278711214:95,972,880G/A—likely benign
rs7722071514:95,972,885A/G—benign
rs5480152784:95,972,919A/G—likely benign
rs1838663294:95,973,096C/T—likely benign
rs597797924:95,973,206A/T—benign
rs76651674:96,025,302T/G—benign
rs1153958284:96,025,422A/G—likely benign
rs1509744614:96,025,586G/A—conflicting classifications of pathogenicity
rs14664184304:96,025,590T/G—likely benign
rs1438858684:96,025,591G/A—conflicting classifications of pathogenicity
rs5369600154:96,025,593A/G—likely benign
rs21492654354:96,025,596A/G—likely benign
rs9367934304:96,025,611C/T—uncertain significance
rs13746988904:96,025,613C/T—uncertain significance
rs13461159554:96,025,618A/G—conflicting classifications of pathogenicity
rs25301120794:96,025,622A/G—uncertain significance
rs1908830134:96,025,637C/T—likely benign
rs25301123154:96,025,642C/G—uncertain significance
rs7543656454:96,025,645A/G—uncertain significance
rs9121150354:96,025,646C/T—uncertain significance
rs1486032334:96,025,647C/G—likely benign
rs1457001914:96,025,649C/A—likely benign
rs3770001024:96,025,652G/C—uncertain significance
rs7573128344:96,025,655C/G—uncertain significance
rs7734172704:96,025,660G/T—conflicting classifications of pathogenicity
rs25301126524:96,025,663T/G—uncertain significance
rs7458543874:96,025,666C/Tmissense variantpathogenic
rs2000358024:96,025,667G/A—likely benign
rs15790849704:96,025,678C/T—uncertain significance
rs7754956534:96,025,696G/T—conflicting classifications of pathogenicity
rs7537479144:96,025,727T/C—likely benign
rs3769138414:96,035,854G/A—likely benign
rs7560551044:96,035,874A/G—likely benign
rs1473202124:96,035,877C/T—likely benign
rs8632250414:96,035,884T/Cmissense variantpathogenic
rs15539393714:96,035,909A/C—uncertain significance
rs9607129344:96,035,910C/T—likely benign
rs7591499744:96,035,941C/T—likely benign
rs2007029744:96,035,956T/G—conflicting classifications of pathogenicity
rs17318976204:96,035,960A/G—uncertain significance
rs21492778364:96,035,971C/T—uncertain significance
rs21492778414:96,035,972G/A—uncertain significance
rs25301593894:96,035,983A/T—likely benign
rs170230444:96,036,076A/G—benign
rs766964144:96,036,500C/A—benign
rs170230474:96,036,691G/A—likely benign
rs170230524:96,036,693A/G—likely benign
rs1998922094:96,036,827C/T—likely benign
rs5708086494:96,036,832A/G—benign
rs7774097484:96,036,833T/C—uncertain significance
rs3698072644:96,036,836G/A—uncertain significance
rs2000838664:96,036,840C/T—conflicting classifications of pathogenicity
rs3761836474:96,036,861G/T—uncertain significance
rs2008860634:96,036,869G/A—likely benign
rs7594236004:96,036,878A/G—conflicting classifications of pathogenicity
rs7582220074:96,036,880A/G—likely benign
rs1404998884:96,036,889C/T—likely benign
rs12284311494:96,036,910C/T—likely benign
rs12255501384:96,036,923C/T—likely benign
rs7750269904:96,036,956C/G—likely benign
rs609689704:96,044,812A/T—benign
rs14226718944:96,044,969G/A—likely benign
rs25302065504:96,044,971T/G—uncertain significance
rs7598033474:96,044,981C/T—uncertain significance
rs5611170664:96,045,002T/A—uncertain significance
rs1500022054:96,045,006T/G—likely benign
rs13076848684:96,045,022G/A—likely benign
rs1388018214:96,045,029G/A—likely benign
rs25302070934:96,045,030T/G—uncertain significance
rs25302071674:96,045,036T/C—uncertain significance
rs17327139304:96,045,039T/C—uncertain significance
rs559806704:96,045,041T/C—likely benign
rs25302072964:96,045,051A/G—uncertain significance
rs342314644:96,045,056C/T—benign
rs100012134:96,045,834C/G—benign
rs8690256134:96,046,133G/A—pathogenic
rs1403608094:96,046,151C/G—uncertain significance
rs7756086894:96,046,155A/G—conflicting classifications of pathogenicity
rs7796094714:96,046,156C/T—uncertain significance
rs21492923914:96,046,157C/T—uncertain significance
rs25302136624:96,046,161A/G—likely benign
rs15791194474:96,046,163A/G—uncertain significance

Showing 100 of 332 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.