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

Gene ID: 651, updated on 4-Jul-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
109.20210514 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)

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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 109.20210514

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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