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    BMP3 bone morphogenetic protein 3 [ Homo sapiens (human) ]

    Gene ID: 651, updated on 23-Nov-2021

    Summary

    Official Symbol
    BMP3provided by HGNC
    Official Full Name
    bone morphogenetic protein 3provided by HGNC
    Primary source
    HGNC:HGNC:1070
    See related
    Ensembl:ENSG00000152785 MIM:112263
    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
    BMP-3A
    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. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in urinary bladder (RPKM 12.1), colon (RPKM 5.2) and 5 other tissues See more
    Orthologs
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    Genomic context

    See BMP3 in Genome Data Viewer
    Location:
    4q21.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (81030708..81057627)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81951862..81978781)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 341 pseudogene Neighboring gene cilia and flagella associated protein 299 Neighboring gene uncharacterized LOC105377305 Neighboring gene protein kinase cGMP-dependent 2 Neighboring gene PRKG2 antisense RNA 1 Neighboring gene RNA, U5A small nuclear 2, pseudogene

    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 and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    GeneReviews: Not available
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    bone morphogenetic protein 3
    Names
    bone morphogenetic protein 3 (osteogenic)
    bone morphogenetic protein 3A
    osteogenin

    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.

    mRNA and Protein(s)

    1. NM_001201.5NP_001192.4  bone morphogenetic protein 3 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC093883
      Consensus CDS
      CCDS3588.1
      Related
      ENSP00000282701.2, ENST00000282701.4
      Conserved Domains (1) summary
      cd19393
      Location:363472
      TGF_beta_BMP3; transforming growth factor beta (TGF-beta) like domain found in bone morphogenetic protein 3 (BMP-3) and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      81030708..81057627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714291.3XP_006714354.1  bone morphogenetic protein 3 isoform X1

      Conserved Domains (1) summary
      cl02510
      Location:370439
      TGF_beta; Transforming growth factor beta like domain
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