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

Gene ID: 12163, updated on 11-Apr-2024

Summary

Official Symbol
Bmp8aprovided by MGI
Official Full Name
bone morphogenetic protein 8aprovided by MGI
Primary source
MGI:MGI:104515
See related
Ensembl:ENSMUSG00000032726 AllianceGenome:MGI:104515
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
Orthologs
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Genomic context

Location:
4 D2.2; 4 57.42 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (123206438..123237045, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (123312645..123343252, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2118 Neighboring gene poly(A) binding protein, cytoplasmic 4 Neighboring gene predicted gene, 25788 Neighboring gene predicted gene, 22154 Neighboring gene STARR-seq mESC enhancer starr_11290 Neighboring gene 3-oxoacid CoA transferase 2A Neighboring gene microtubule-actin crosslinking factor 1 Neighboring gene STARR-seq mESC enhancer starr_11292 Neighboring gene predicted gene 12924 Neighboring gene predicted gene, 31156

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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cytokine activity TAS
Traceable Author Statement
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
bone morphogenetic protein 8A
Names
osteogenic protein 2

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_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
    ENSMUSP00000037779.6, ENSMUST00000040496.6
    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
    Related
    ENSMUSP00000099701.4, ENSMUST00000102641.10
    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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    123206438..123237045 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)