Format

Send to:

Choose Destination

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

Gene ID: 659, updated on 4-Jun-2020

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

Genomic context

See BMPR2 in Genome Data Viewer
Location:
2q33.1-q33.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 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

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

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
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
 
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
aortic valve development 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 development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
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 by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
pulmonary valve development 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
 
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
 
vasculature development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
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 HDA 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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.

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.
Support Center