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

    Gene ID: 659, updated on 10-Jun-2024

    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; AllianceGenome:HGNC:1078
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMPR2 in Genome Data Viewer
    Location:
    2q33.1-q33.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202376327..202567749)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202857368..203049014)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203241050..203432472)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene PIMREG pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:203223115-203223699 Neighboring gene RNA, 7SL, cytoplasmic 40, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:203241612-203242395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:203281381-203282254 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:203284003-203284874 Neighboring gene ribosomal protein L13a pseudogene 12 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:203398936-203399934 Neighboring gene H3 histone pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:203441426-203442330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17002 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
    Pulmonary hypertension, primary, 1 Compare labs
    Pulmonary venoocclusive disease 1
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS 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

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    involved_in blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell surface receptor protein serine/threonine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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 lung vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    NOT involved_in pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    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 epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    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 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
     
    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 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 axon 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 dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA 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
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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
    XP_054199481.1

    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
      Q13161, Q13873, Q16569, Q4ZG08, Q53SA5, Q585T8
      UniProtKB/TrEMBL
      A8K8R5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      202376327..202567749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A8K8R5
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202857368..203049014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343506.1XP_054199481.1  bone morphogenetic protein receptor type-2 isoform X1

      UniProtKB/TrEMBL
      A8K8R5

    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.