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BMPR2 bone morphogenetic protein receptor type 2 [ Homo sapiens (human) ]

Gene ID: 659, updated on 21-May-2017
Official Symbol
BMPR2provided by HGNC
Official Full Name
bone morphogenetic protein receptor type 2provided by HGNC
Primary source
HGNC:HGNC:1078
See related
Ensembl:ENSG00000204217 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; POVD1; T-ALK; BMPR-II
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]
Orthologs
Location:
2q33.1-q33.2
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (202376310..202567751)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203241033..203432474)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985976 Neighboring gene family with sequence similarity 64 member A pseudogene Neighboring gene RNA, 7SL, cytoplasmic 40, pseudogene Neighboring gene ribosomal protein L13a pseudogene 12 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 17 Neighboring gene mitochondrially encoded cytochrome c oxidase II pseudogene 17

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Primary pulmonary hypertension Compare labs
Pulmonary veno-occlusive disease
MedGen: C0034091 OMIM: 265450 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-11-07)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-11-07)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of pulmonary arterial smooth muscle cells with HIV-1 gp120 downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
Nef nef Treatment of pulmonary arterial smooth muscle cells with HIV-1 Nef downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
Tat tat BMP-2 treatment of BMPR-2 overexpressing pulmonary arterial smooth muscle cells (PASMCs) completely inhibits HIV-1 Tat- and cocaine-mediated augmentation of PASMC proliferation PubMed
tat Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
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 Interaction Database

  • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ALK1 signaling events, organism-specific biosystem
    ALK1 signaling events
  • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ALK2 signaling events, organism-specific biosystem
    ALK2 signaling events
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    BMP receptor signaling, organism-specific biosystem
    BMP receptor signaling
  • BMP signaling, organism-specific biosystem (from KEGG)
    BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • BMP signaling, conserved biosystem (from KEGG)
    BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem (from WikiPathways)
    Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
  • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by BMP, organism-specific biosystem (from REACTOME)
    Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41585, FLJ76945

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
BMP binding IPI
Inferred from Physical Interaction
more info
PubMed 
BMP receptor activity ISS
Inferred from Sequence or Structural Similarity
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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
Inferred from Electronic Annotation
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
 
activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
artery development ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
NOT cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to starvation IEP
Inferred from Expression Pattern
more info
PubMed 
chondrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocardial cushion development ISS
Inferred from Sequence or Structural Similarity
more info
 
endochondral bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
limb development IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
lymphangiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
lymphatic endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
maternal placenta development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of DNA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation involved in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of chondrocyte proliferation IMP
Inferred from Mutant Phenotype
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
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT pharyngeal arch artery morphogenesis 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 axon extension involved in axon guidance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 vasculature development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
semi-lunar valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction by protein phosphorylation 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 
tricuspid valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
vascular endothelial growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
venous blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis 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
 
cell-cell adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
spanning component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
bone morphogenetic protein receptor type-2
Names
BMP type II receptor
BMP type-2 receptor
bone morphogenetic protein receptor type II
bone morphogenetic protein receptor, type II (serine/threonine kinase)
type II activin receptor-like kinase
type II receptor for bone morphogenetic protein-4
NP_001195.2
XP_011509989.1

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

  1. NG_009363.1 RefSeqGene

    Range
    5001..196425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_712

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001195.2

    Status: REVIEWED

    Source sequence(s)
    AC009960, BC035097, D50516, DA787547, DB233604
    Consensus CDS
    CCDS33361.1
    UniProtKB/Swiss-Prot
    Q13873
    Related
    ENSP00000363708.4, OTTHUMP00000164984, ENST00000374580.8, OTTHUMT00000257743
    Conserved Domains (3) summary
    smart00220
    Location:204495
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14054
    Location:207504
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
    pfam01064
    Location:60131
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    202376310..202567751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511687.1XP_011509989.1  bone morphogenetic protein receptor type-2 isoform X1

    Conserved Domains (3) summary
    smart00220
    Location:204495
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14054
    Location:207504
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
    pfam01064
    Location:60131
    Activin_recp; Activin types I and II receptor domain

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    203247530..203439226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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