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

    Gene ID: 12163, updated on 2-Nov-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

    See Bmp8a in Genome Data Viewer
    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 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
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    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)