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Bmp3 bone morphogenetic protein 3 [ Mus musculus (house mouse) ]

Gene ID: 110075, updated on 10-Oct-2019

Summary

Official Symbol
Bmp3provided by MGI
Official Full Name
bone morphogenetic protein 3provided by MGI
Primary source
MGI:MGI:88179
See related
Ensembl:ENSMUSG00000029335
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
9530029I04Rik
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. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
Expression
Biased expression in bladder adult (RPKM 21.8), lung adult (RPKM 8.1) and 11 other tissues See more
Orthologs

Genomic context

See Bmp3 in Genome Data Viewer
Location:
5 E3; 5 48.24 cM
Exon count:
3
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (98854415..98884053)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (99283458..99309979)

Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 299 Neighboring gene RIKEN cDNA 1700010H22 gene Neighboring gene predicted gene, 24279 Neighboring gene predicted gene, 42122 Neighboring gene Bmp3 5' regulatory region Neighboring gene predicted gene, 34563 Neighboring gene predicted gene, 42123 Neighboring gene protein kinase, cGMP-dependent, type II Neighboring gene predicted gene 3470 Neighboring gene PRELI domain-containing protein 1, mitochondrial-like

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

  • Adipogenesis genes, organism-specific biosystem (from WikiPathways)
    Adipogenesis genes, organism-specific biosystemThe different classes of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compos...

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
BMP receptor binding ISO
Inferred from Sequence Orthology
more info
PubMed 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity ISO
Inferred from Sequence Orthology
more info
 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
ossification 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
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space ISO
Inferred from Sequence Orthology
more info
 
vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
bone morphogenetic protein 3

NCBI Reference Sequences (RefSeq)

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_001310677.2NP_001297606.1  bone morphogenetic protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001297606.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 2.
    Source sequence(s)
    AC141896, AK035299, AK035393
    Consensus CDS
    CCDS80345.1
    UniProtKB/TrEMBL
    A0A0G2JEU2
    Related
    ENSMUSP00000142907.1, ENSMUST00000200388.1
    Conserved Domains (1) summary
    pfam00019
    Location:364424
    TGF_beta; Transforming growth factor beta like domain
  2. NM_173404.5NP_775580.1  bone morphogenetic protein 3 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_775580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AC141896, AK035299, AK040389
    Consensus CDS
    CCDS19458.1
    UniProtKB/Swiss-Prot
    Q8BHE5
    UniProtKB/TrEMBL
    Q149J9
    Related
    ENSMUSP00000031278.4, ENSMUST00000031278.5
    Conserved Domains (1) summary
    pfam00019
    Location:364467
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000071.6 Reference GRCm38.p6 C57BL/6J

    Range
    98854415..98884053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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