BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: BMPR2provided by HGNC
Official Full Name: bone morphogenetic protein receptor, type II (serine/threonine kinase)provided by HGNC
Primary source: HGNC:1078
See related: Ensembl:ENSG00000204217; HPRD:02880; MIM:600799; Vega:OTTHUMG00000133617
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BMR2; PPH1; BMPR3; BRK-3; T-ALK; BMPR-II; FLJ41585; FLJ76945
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 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. 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, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 2q33-q34

Sequence :: Chromosome: 2; NC_000002.11 (203241050..203432474)

See BMPR2 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Report significant reduction in BMPR2 expression in pulmonary arteries of patients with failed Fontan circulations.
Title: Attenuation of bone morphogenetic protein receptor type 2 expression in the pulmonary arteries of patients with failed Fontan circulation.
These results demonstrate the role of BMPR2 mutation in the pathogenesis of PAH and indicate that variation within the SMAD family represents an infrequent cause of the disease.
Title: Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Variation in BMPR2 is associated with dizygotic twinning.
Title: Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning.
Stimulation of BMPRII promotes normal pulmonary artery endothelial cell function by activating eNOS.
Title: Bone morphogenetic protein receptor II is a novel mediator of endothelial nitric-oxide synthase activation.
Identify new BMPR2 mutations in pulmonary arterial hypertension associated with younger age at diagnosis and more severe hemodynamic compromise.
Title: Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Data describe a BMPR2-mediated transcriptional complex between PPARgamma and beta-catenin, and suggest that apelin could be effective in treating PAH by rescuing BMPR2 and PAEC dysfunction.
Title: Disruption of PPARγ/β-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival.
Three BMPR2 mutants decreased BMP-dependent Smad phosphorylation and Smad signaling. New treatment options for PAH should also target receptor localization, rather than just expression level.
Title: Trapping of BMP receptors in distinct membrane domains inhibits their function in pulmonary arterial hypertension.
Combined BMPR2 genotype-phenotype-mRNA expression data as well as evolutionary aspects suggest a role of BMPR2 in the pathophysiology of obesity.
Title: Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity.
The researchers found evidence that polymorphisms in the BMPR2 gene are overrepresented in patients with atrial septal heart defects and exercise-associated pulmonary hypertension.
Title: A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects.
BMPR-II mutations in heritable pulmonary arterial hypertension characterized by retention within the endoplasmic reticulum; restoration of cell surface expression of ligand-binding domain mutants leads to partial rescue of BMP signaling
Title: Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension.

Submit: New GeneRIF Correction See all (98)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Primary pulmonary hypertension 1

MIM: 178600

Pulmonary venoocclusive disease

MIM: 265450

Help top of page

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat interaction with cyclin T1 is required for the repression of mannose receptor (MR) and bone morphogenetic protein receptor-2 (BMPR2) promoters	PubMed
	tat	HIV-1 Tat decreases the transcriptional levels of bone morphogenetic protein receptor-2 (BMPR2) in the macrophage cell line U937	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q13873	Q9H981	ACTR8	HPRD	PubMed
Q13873	P15289	ARSA	HPRD	PubMed
Q13873	P12643	BMP2	HPRD	PubMed
Q13873	P12644	BMP4	HPRD	PubMed
Q13873	P22004	BMP6	HPRD	PubMed
Q13873	P18075	BMP7	HPRD	PubMed
Q13873	P36894	BMPR1A	HPRD	PubMed
Q13873	O00238	BMPR1B	HPRD	PubMed
Q13873	Q13873	BMPR2	HPRD	PubMed
Q13873	P04003	C4BPA	HPRD	PubMed
Q13873	Q8N998	CCDC89	HPRD	PubMed
Q13873	P23141	CES1	HPRD	PubMed
Q13873	P02511	CRYAB	HPRD	PubMed
Q13873	Q13363	CTBP1	HPRD	PubMed
Q13873	P63172	DYNLT1	HPRD	PubMed
Q13873	Q12952	FOXL1	HPRD	PubMed
Q13873	O43559	FRS3	HPRD	PubMed
Q13873	P43026	GDF5	HPRD	PubMed
Q13873	Q6KF10	GDF6	HPRD	PubMed
Q13873	O60383	GDF9	HPRD	PubMed
Q13873	O43390	HNRNPR	HPRD	PubMed
Q13873	P53667	LIMK1	HPRD	PubMed
Q13873	Q8TE12	LMX1A	HPRD	PubMed
Q13873	Q969L4	LSM10	HPRD	PubMed
Q13873	P33241	LSP1	HPRD	PubMed
Q13873	P41279	MAP3K8	HPRD	PubMed
Q13873	Q12866	MERTK	HPRD	PubMed
Q13873	P00540	MOS	HPRD	PubMed
Q13873	Q8NFP9	NBEA	HPRD	PubMed
Q13873	O00567	NOP56	HPRD	PubMed
Q13873	Q02509	OC90	HPRD	PubMed
Q13873	Q9UPQ7	PDZRN3	HPRD	PubMed
Q13873	Q10713	PMPCA	HPRD	PubMed
Q13873	P05771	PRKCB	HPRD	PubMed
Q13873	Q92696	RABGGTA	HPRD	PubMed
Q13873	P49888	SULT1E1	HPRD	PubMed
Q13873	Q92547	TOPBP1	HPRD	PubMed
Q13873	P48995	TRPC1	HPRD	PubMed
Q13873	P07437	TUBB	HPRD	PubMed
Q13873	P04350	TUBB4A	HPRD	PubMed
Q13873	Q12792	TWF1	HPRD	PubMed
BioGRID:107127	BioGRID:106605	ACVR1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107127	BioGRID:106606	ACVR1B	BioGRID	PubMed	Two-hybrid
BioGRID:107127	BioGRID:207864	Actr8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:208019	Asna1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:107118	BMP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107127	BioGRID:107120	BMP4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107127	BioGRID:107122	BMP6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107127	BioGRID:107123	BMP7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107127	BioGRID:107125	BMPR1A	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:107127	BioGRID:107126	BMPR1B	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:107127	BioGRID:107127	BMPR2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107127	BioGRID:117043	CES3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:107800	CRYAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:198961	Ctbp1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107127	BioGRID:108565	FHL2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107127	BioGRID:116030	FRS3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:115731	FST	BioGRID	PubMed	Co-crystal Structure
BioGRID:107127	BioGRID:199698	Foxl1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:108912	GCGR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:113839	GDF5	BioGRID	PubMed	Reconstituted Complex
BioGRID:107127	BioGRID:134147	GDF6	BioGRID	PubMed	Reconstituted Complex
BioGRID:107127	BioGRID:108930	GDF9	BioGRID	PubMed	Reconstituted Complex
BioGRID:107127	BioGRID:216667	Hnrnpr	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:110172	LIMK1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107127	BioGRID:225780	Lmx1a	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:201211	Lsp1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:111585	MAPK8	BioGRID	PubMed	Two-hybrid
BioGRID:107127	BioGRID:201470	Mos	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:201892	Oc90	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:207755	Pdzrn3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:211772	Pmpca	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:202195	Prkcb	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107127	BioGRID:207827	Rabggta	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:203440	Serpina3k	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:203533	Sult1e1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:112904	TGFBR1	BioGRID	PubMed	Two-hybrid
BioGRID:107127	BioGRID:120842	TSR1	BioGRID	PubMed	Two-hybrid
BioGRID:107127	BioGRID:204327	Trpc1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:204381	Tubb5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:202468	Twf1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107127	BioGRID:106828	XIAP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107127	BioGRID:212308	Zfp788	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
activin receptor activity, type II	TAS Traceable Author Statement more info
growth factor binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta-activated receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
BMP signaling pathway	TAS Traceable Author Statement more info
anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
brain development	IEA Inferred from Electronic Annotation more info
cellular response to starvation	IEP Inferred from Expression Pattern more info	PubMed
lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
mesoderm formation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
negative regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of vasoconstriction	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of pathway-restricted SMAD protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of lung blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of lung blood pressure	ISS Inferred from Sequence or Structural Similarity more info
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
transmembrane receptor protein serine/threonine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
vascular endothelial growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
basal plasma membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with caveola	IMP Inferred from Mutant Phenotype more info	PubMed
cell surface	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
dendrite	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
neuronal cell body	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: bone morphogenetic protein receptor type-2

Names: bone morphogenetic protein receptor type-2; BMPR-2; BMP type-2 receptor; BMP type II receptor; type II activin receptor-like kinase; bone morphogenetic protein receptor type II; type II receptor for bone morphogenetic protein-4

NP_001195.2

EC 2.7.11.30

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009363.1 RefSeqGene

Range

5001..196425

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204.6 → NP_001195.2 bone morphogenetic protein receptor type-2 precursor

Status: REVIEWED

Source sequence(s)

AC009960, BC035097, D50516, DA787547, DB233604

Consensus CDS

CCDS33361.1

UniProtKB/Swiss-Prot

Q13873

Related

ENSP00000363708, OTTHUMP00000164984, ENST00000374580, OTTHUMT00000257743

Conserved Domains (4) summary

cd00180
Location:209 – 416
Blast Score: 348

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:60 – 131
Blast Score: 185

Activin_recp; Activin types I and II receptor domain

pfam00069
Location:209 – 497
Blast Score: 422

Pkinase; Protein kinase domain

cl09925
Location:331 – 505
Blast Score: 114

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

203241050..203432474

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

195088272..195279312

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_033346.2: Suppressed sequence

Description

NM_033346.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009960.10	AAX76517.1
genomic	AC064836.7	AAY24146.1
genomic	AC073410.7	AAX88941.1
genomic	CH471063.1	EAW70309.1
		EAW70310.1
mRNA	AK023426.1	None
mRNA	AK093832.1	None
mRNA	AK123579.1	None
mRNA	AK292430.1	BAF85119.1
mRNA	AY277593.1	AAQ18032.1
mRNA	BC018743.1	None
mRNA	BC032011.1	None
mRNA	BC035097.1	None
mRNA	BC041039.1	None
mRNA	BC043650.2	None
mRNA	BC052985.2	AAH52985.1
mRNA	BF063564.1	None
mRNA	BG530017.1	None
mRNA	BQ889263.1	None
mRNA	BQ896556.1	None
mRNA	BU176845.1	None
mRNA	C15977.1	None
mRNA	D50516.1	BAA09094.1
mRNA	DA787547.1	None
mRNA	DB233604.1	None
mRNA	U20165.1	AAC50105.1
mRNA	Z48923.1	CAA88759.1