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    BMP2 bone morphogenetic protein 2 [ Homo sapiens (human) ]

    Gene ID: 650, updated on 23-Aug-2016
    Official Symbol
    BMP2provided by HGNC
    Official Full Name
    bone morphogenetic protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1069
    See related
    Ensembl:ENSG00000125845 HPRD:00206; MIM:112261; Vega:OTTHUMG00000031833
    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
    BDA2; BMP2A
    Summary
    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    20p12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (6767700..6780280)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (6748745..6760910)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372516 Neighboring gene uncharacterized LOC105372517 Neighboring gene long intergenic non-protein coding RNA 1428 Neighboring gene uncharacterized LOC101929288

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brachydactyly type A2
    MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
    Compare labs
    Hemochromatosis type 1 Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    NHGRI GWA Catalog
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag reduces osteoblast function and significantly reduces the levels of BMP-2, BMP-7, osteocalcin, and RANK-L PubMed
    Tat tat Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat induces significantly higher secretion of BMP-2 and BMP-7 ligands when compared with that of untreated cells PubMed
    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 BMP-2 is upregulated by HIV-1 Tat treatment in human epithelial cells PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    co-receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatase activator activity IDA
    Inferred from Direct Assay
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    retinol dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transforming growth factor beta receptor binding TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    BMP signaling pathway involved in heart induction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone mineralization involved in bone maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to BMP stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    corticotropin hormone secreting cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryo development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic heart tube anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth IEA
    Inferred from Electronic Annotation
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mesenchymal cell proliferation involved in ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchyme development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Wnt signaling pathway involved in heart development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of calcium-independent cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of cardiac muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cortisol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    odontogenesis of dentin-containing tooth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pericardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of Wnt signaling pathway by BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of odontogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of ossification IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of p38MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphatase activity IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteoglycan metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    telencephalon development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telencephalon regionalization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thyroid-stimulating hormone-secreting cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    BMP receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    bone morphogenetic protein 2
    Names
    bone morphogenetic protein 2A

    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_023233.1 RefSeqGene

      Range
      5001..17183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001200.3NP_001191.1  bone morphogenetic protein 2 preproprotein

      See identical proteins and their annotated locations for NP_001191.1

      Status: REVIEWED

      Source sequence(s)
      AA489383, AL035668, BC069214, BM670141, M22489
      Consensus CDS
      CCDS13099.1
      UniProtKB/Swiss-Prot
      P12643
      UniProtKB/TrEMBL
      C8C060
      Related
      ENSP00000368104, OTTHUMP00000030228, ENST00000378827, OTTHUMT00000077918
      Conserved Domains (2) summary
      smart00204
      Location:296396
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:42267
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      6767700..6780280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529323.2XP_011527625.1  

      Conserved Domains (2) summary
      smart00204
      Location:140240
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:13111
      TGFb_propeptide; TGF-beta propeptide

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      6748804..6760987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)