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

Gene ID: 659, updated on 15-Jul-2015
Official Symbol
BMPR2provided by HGNC
Official Full Name
bone morphogenetic protein receptor, type II (serine/threonine kinase)provided by HGNC
Primary source
HGNC: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; 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
See BMPR2 in Epigenomics, MapViewer
Location:
2q33-q34
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 NOP58 ribonucleoprotein Neighboring gene small nucleolar RNA, C/D box 11 Neighboring gene family with sequence similarity 64, member A pseudogene Neighboring gene ribosomal protein L13a pseudogene 12 Neighboring gene MT-ND4 pseudogene 30 Neighboring gene family with sequence similarity 117, member B

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
  • 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
  • BMP signalling and regulation, organism-specific biosystem (from WikiPathways)
    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...
  • 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 ...
  • 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...
  • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
  • 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...
  • 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 biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
  • 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 
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 
receptor signaling protein 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 TAS
Traceable Author Statement
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
 
blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development IEA
Inferred from Electronic Annotation
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 
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
 
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 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
 
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 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 
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
 
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 
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
 
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
 
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
 
neuronal postsynaptic density 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
 
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
BMPR-2
bone morphogenetic protein receptor type II
type II activin receptor-like kinase
type II receptor for bone morphogenetic protein-4
NP_001195.2

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, OTTHUMP00000164984, ENST00000374580, OTTHUMT00000257743
    Conserved Domains (3) summary
    pfam00069
    Location:203497
    Pkinase; Protein kinase domain
    pfam01064
    Location:60131
    Activin_recp; Activin types I and II receptor domain
    cd14054
    Location:207504
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011511687.1XP_011509989.1  

    Conserved Domains (3) summary
    pfam00069
    Location:203497
    Pkinase; Protein kinase domain
    pfam01064
    Location:60131
    Activin_recp; Activin types I and II receptor domain
    cd14054
    Location:207504
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
  2. XM_011511688.1XP_011509990.1  

    See identical proteins and their annotated locations for XP_011509990.1

    UniProtKB/Swiss-Prot
    Q13873
    Conserved Domains (3) summary
    pfam00069
    Location:203497
    Pkinase; Protein kinase domain
    pfam01064
    Location:60131
    Activin_recp; Activin types I and II receptor domain
    cd14054
    Location:207504
    STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

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.