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

Gene ID: 651, updated on 8-May-2016
Official Symbol
BMP3provided by HGNC
Official Full Name
bone morphogenetic protein 3provided by HGNC
Primary source
HGNC:HGNC:1070
See related
Ensembl:ENSG00000152785 HPRD:00208; MIM:112263; Vega:OTTHUMG00000130292
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
BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008]
Orthologs
Location:
4q21
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (81030622..81057531)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81952119..81978685)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 341 pseudogene Neighboring gene chromosome 4 open reading frame 22 Neighboring gene uncharacterized LOC105377305 Neighboring gene uncharacterized LOC101928942 Neighboring gene protein kinase, cGMP-dependent, type II Neighboring gene RNA, U5A small nuclear 2, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
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 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
receptor binding TAS
Traceable Author Statement
more info
PubMed 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
growth IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
bone morphogenetic protein 3
Names
BMP-3
bone morphogenetic protein 3 (osteogenic)
bone morphogenetic protein 3A
bone morphogenetic protein-3
osteogenin

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_001201.2NP_001192.2  bone morphogenetic protein 3 preproprotein

    See identical proteins and their annotated locations for NP_001192.2

    Status: REVIEWED

    Source sequence(s)
    AC093883
    Consensus CDS
    CCDS3588.1
    UniProtKB/Swiss-Prot
    P12645
    Related
    ENSP00000282701, OTTHUMP00000160802, ENST00000282701, OTTHUMT00000252634
    Conserved Domains (2) summary
    smart00204
    Location:370472
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:23238
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    81030622..81057531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714291.2XP_006714354.1  

    Conserved Domains (2) summary
    pfam00688
    Location:23238
    TGFb_propeptide; TGF-beta propeptide
    cl02510
    Location:370439
    TGF_beta; Transforming growth factor beta like domain

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    81928619..81955186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)