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

Gene ID: 659, updated on 26-Jul-2021

Summary

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
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 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]
Expression
Ubiquitous expression in lung (RPKM 16.2), brain (RPKM 15.1) and 24 other tissues See more
Orthologs
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Genomic context

See BMPR2 in Genome Data Viewer
Location:
2q33.1-q33.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (202376310..202567751)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203241050..203432472)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985976 Neighboring gene PIMREG pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 40, pseudogene Neighboring gene ribosomal protein L13a pseudogene 12 Neighboring gene MT-CO1 pseudogene 17 Neighboring gene MT-CO2 pseudogene 17

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Primary pulmonary hypertension 1 Compare labs
Pulmonary venoocclusive disease 1, autosomal dominant
MedGen: C3887658 OMIM: 265450 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-08-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-26)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41585, FLJ76945

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables BMP binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables BMP receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables activin receptor activity, type II TAS
Traceable Author Statement
more info
 
enables cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activator activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription regulator activator activity IEA
Inferred from Electronic Annotation
more info
 
enables transforming growth factor beta-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in BMP signaling pathway TAS
Traceable Author Statement
more info
 
involved_in activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in aortic valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in artery development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrial septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to starvation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in chondrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocardial cushion development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endochondral bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in limb development IEA
Inferred from Electronic Annotation
more info
 
involved_in lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymphangiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymphatic endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in maternal placenta development IEA
Inferred from Electronic Annotation
more info
 
involved_in mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of DNA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell proliferation involved in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of chondrocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of systemic arterial blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of vasoconstriction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of axon extension involved in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pulmonary valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of lung blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of lung blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retina vasculature development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in semi-lunar valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transmembrane receptor protein serine/threonine kinase signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tricuspid valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in venous blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with caveola IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in spanning component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001204.7NP_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, ENST00000374580.10
    Conserved Domains (2) summary
    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:52127
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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

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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