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Bmp8a bone morphogenetic protein 8a [ Mus musculus (house mouse) ]

Gene ID: 12163, updated on 31-Jan-2019

Summary

Official Symbol
Bmp8aprovided by MGI
Official Full Name
bone morphogenetic protein 8aprovided by MGI
Primary source
MGI:MGI:104515
See related
Ensembl:ENSMUSG00000032726
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
OP2; OP-2; Bmp7r1
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 may play a role in development of the reproductive system. Mice lacking a functional copy of this gene exhibit degeneration of germ cells and the epididymal epithelium. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
Expression
Biased expression in small intestine adult (RPKM 17.7), colon adult (RPKM 6.7) and 5 other tissues See more

Genomic context

See Bmp8a in Genome Data Viewer
Location:
4 D2.2; 4 57.42 cM
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (123312645..123343252, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (122989888..123020046, complement)

Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene predicted gene 12900 Neighboring gene poly(A) binding protein, cytoplasmic 4 Neighboring gene 3-oxoacid CoA transferase 2A Neighboring gene microtubule-actin crosslinking factor 1 Neighboring gene RIKEN cDNA D830031N03 gene Neighboring gene predicted gene 12924

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

Variation

Alleles

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

Pathways from BioSystems

  • BMP signaling, organism-specific biosystem (from KEGG)
    BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • BMP signaling, conserved biosystem (from KEGG)
    BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
BMP receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine activity TAS
Traceable Author Statement
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
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
 
diet induced thermogenesis ISO
Inferred from Sequence Orthology
more info
 
energy homeostasis ISO
Inferred from Sequence Orthology
more info
 
germ cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin secretion ISO
Inferred from Sequence Orthology
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
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 
spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
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 

General protein information

Preferred Names
bone morphogenetic protein 8A
Names
osteogenic protein 2

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_001256019.1NP_001242948.1  bone morphogenetic protein 8A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001242948.1

    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)
    AK157978, BC052168
    Consensus CDS
    CCDS57293.1
    UniProtKB/TrEMBL
    Q3TZB2, Q80VZ0
    Related
    ENSMUSP00000037779.5, ENSMUST00000040496.5
    Conserved Domains (2) summary
    pfam00019
    Location:298411
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:32248
    TGFb_propeptide; TGF-beta propeptide
  2. NM_007558.3NP_031584.1  bone morphogenetic protein 8A isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_031584.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment in the C-terminal region, compared to isoform 1.
    Source sequence(s)
    AK157978, BC052168
    Consensus CDS
    CCDS18616.1
    UniProtKB/Swiss-Prot
    P34821
    UniProtKB/TrEMBL
    Q3TZB2, Q80VZ0
    Related
    ENSMUSP00000099701.3, ENSMUST00000102641.9
    Conserved Domains (2) summary
    pfam00019
    Location:298398
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:32248
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

    Range
    123312645..123343252 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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