BMPR2

bone morphogenetic protein receptor type 2

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 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 two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

Known Variants739 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055458	2:203,241,084	A/C	—	uncertain significance
rs1199086671	2:203,241,169	G/A	—	uncertain significance
rs562633536	2:203,241,265	G/A	—	uncertain significance
rs3044175	2:203,241,268	G/A	—	uncertain significance
rs530181389	2:203,241,271	A/G	—	likely benign
rs1231549120	2:203,241,274	A/G	—	benign
rs886055462	2:203,241,276	C/T	—	uncertain significance
rs1258082627	2:203,241,277	A/G	—	likely benign
rs886055463	2:203,241,327	G/A	—	uncertain significance
rs886055464	2:203,241,361	G/T	—	uncertain significance
rs886055465	2:203,241,445	C/T	—	uncertain significance
rs114110688	2:203,241,494	C/G	—	benign
rs886055466	2:203,241,496	C/T	—	uncertain significance
rs115604088	2:203,241,529	G/A	regulatory region variant	likely benign
rs886055467	2:203,241,604	A/G	—	uncertain significance
rs550462760	2:203,241,623	A/T	—	uncertain significance
rs766982703	2:203,241,764	G/A	—	uncertain significance
rs1377242364	2:203,241,773	G/T	—	uncertain significance
rs886055468	2:203,241,791	G/T	—	uncertain significance
rs981368884	2:203,241,854	G/T	—	uncertain significance
rs1690166025	2:203,241,885	G/A	—	uncertain significance
rs562548424	2:203,241,888	A/G	—	likely benign
rs116154690	2:203,241,897	G/A	—	likely benign
rs147936167	2:203,242,105	A/G	—	likely benign
rs765364075	2:203,242,128	G/T	—	uncertain significance
rs549281044	2:203,242,206	C/A	—	likely benign
rs1690174755	2:203,242,211	T/C	—	uncertain significance
rs886039219	2:203,242,213	C/T	stop gained	pathogenic
rs1085307149	2:203,242,224	G/A	stop gained	pathogenic
rs1085307150	2:203,242,225	C/T	missense variant	pathogenic
rs761823322	2:203,242,226	G/A	—	conflicting classifications of pathogenicity
rs906306607	2:203,242,230	G/A	—	likely benign
rs1085307151	2:203,242,235	G/A	stop gained	pathogenic
rs1085307152	2:203,242,236	G/A	stop gained	pathogenic
rs1289095937	2:203,242,242	A/G	—	likely benign
rs1085307153	2:203,242,244	G/A	stop gained	pathogenic
rs1085307154	2:203,242,245	G/A	stop gained	pathogenic
rs759723251	2:203,242,254	G/A	—	likely benign
rs149973695	2:203,242,260	C/T	—	likely benign
rs141716313	2:203,242,264	A/G	—	likely benign
rs140659948	2:203,242,265	C/T	—	conflicting classifications of pathogenicity
rs370120266	2:203,242,268	C/A	missense variant	pathogenic
rs1085307155	2:203,242,274	G/A	—	pathogenic
rs1085307156	2:203,242,275	T/G	—	pathogenic
rs1085307157	2:203,242,278	G/A	—	pathogenic
rs768095940	2:203,242,281	G/C	—	likely benign
rs1258687047	2:203,242,290	G/A	—	likely benign
rs6717924	2:203,246,304	G/A	regulatory region variant	—
rs13426118	2:203,255,485	A/C	intron variant	—
rs12471515	2:203,287,580	C/T	intron variant	—
rs6435153	2:203,292,039	C/G	—	—
rs139419283	2:203,295,445	A/G	intron variant	—
rs12693968	2:203,302,627	G/A	intron variant	—
rs2469638371	2:203,329,526	T/G	—	uncertain significance
rs1085307159	2:203,329,531	G/A	—	pathogenic
rs573463511	2:203,329,535	C/T	—	conflicting classifications of pathogenicity
rs147207234	2:203,329,536	G/A	—	likely benign
rs1085307160	2:203,329,537	C/T	stop gained	pathogenic
rs112862820	2:203,329,541	A/G	—	likely benign
rs1085307161	2:203,329,543	C/T	stop gained	pathogenic
rs747740309	2:203,329,544	A/G	—	uncertain significance
rs1085307162	2:203,329,546	G/T	stop gained	pathogenic
rs1692287009	2:203,329,554	A/T	—	likely benign
rs1085307163	2:203,329,555	T/C	missense variant	pathogenic
rs1085307164	2:203,329,558	—	—	pathogenic
rs770128128	2:203,329,559	C/T	—	uncertain significance
rs746943205	2:203,329,560	G/A	—	likely benign
rs1692287436	2:203,329,566	A/G	—	conflicting classifications of pathogenicity
rs770804811	2:203,329,571	C/T	—	conflicting classifications of pathogenicity
rs137852755	2:203,329,575	T/A	stop gained	pathogenic
rs1085307166	2:203,329,579	C/T	stop gained	pathogenic
rs1085307167	2:203,329,580	A/G	missense variant	pathogenic
rs759804753	2:203,329,591	A/G	—	uncertain significance
rs1085307168	2:203,329,595	G/A	missense variant	pathogenic
rs150080314	2:203,329,602	T/G	—	conflicting classifications of pathogenicity
rs201759998	2:203,329,605	A/G	—	likely benign
rs200976092	2:203,329,620	T/C	—	likely benign
rs2469638963	2:203,329,630	T/C	—	likely benign
rs1085307171	2:203,329,633	T/C	missense variant	pathogenic
rs1085307172	2:203,329,634	G/T	missense variant	uncertain significance
rs2105959771	2:203,329,635	C/T	—	likely benign
rs1166280962	2:203,329,637	C/T	—	conflicting classifications of pathogenicity
rs767827692	2:203,329,642	G/C	—	uncertain significance
rs1085307175	2:203,329,651	T/C	missense variant	pathogenic
rs1085307176	2:203,329,652	G/A	missense variant	pathogenic
rs1692290741	2:203,329,653	C/T	—	uncertain significance
rs1559046623	2:203,329,654	T/C	—	uncertain significance
rs1085307177	2:203,329,655	A/G	missense variant	pathogenic
rs1085307179	2:203,329,656	T/G	stop gained	pathogenic
rs1085307180	2:203,329,658	G/A	missense variant	pathogenic
rs1553503208	2:203,329,666	G/A	—	uncertain significance
rs137852742	2:203,329,673	C/A	stop gained	pathogenic
rs757855256	2:203,329,675	A/G	—	likely benign
rs144389360	2:203,329,685	T/C	—	conflicting classifications of pathogenicity
rs771035488	2:203,329,690	C/T	—	uncertain significance
rs1085307183	2:203,329,695	—	—	pathogenic
rs1085307184	2:203,329,699	C/T	stop gained	pathogenic
rs1085307185	2:203,329,701	A/C	missense variant	pathogenic
rs1085307187	2:203,329,702	G/A	missense variant	pathogenic
rs1085307188	2:203,329,703	G/A	—	pathogenic

Showing 100 of 739 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.