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    Bmp8b bone morphogenetic protein 8b [ Mus musculus (house mouse) ]

    Gene ID: 12164, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bmp8bprovided by MGI
    Official Full Name
    bone morphogenetic protein 8bprovided by MGI
    Primary source
    MGI:MGI:107335
    See related
    Ensembl:ENSMUSG00000002384 AllianceGenome:MGI:107335
    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
    Op3
    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. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. 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 3.9), large intestine adult (RPKM 1.9) and 8 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Bmp8b in Genome Data Viewer
    Location:
    4 D2.2; 4 57.38 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (122998101..123019887)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (123104308..123126094)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54255 Neighboring gene STARR-positive B cell enhancer ABC_E2710 Neighboring gene STARR-positive B cell enhancer ABC_E3511 Neighboring gene tRNA isopentenyltransferase 1 Neighboring gene STARR-positive B cell enhancer ABC_E4662 Neighboring gene STARR-positive B cell enhancer ABC_E4663 Neighboring gene predicted gene 12923 Neighboring gene predicted gene, 46868 Neighboring gene predicted gene, 17244 Neighboring gene 3-oxoacid CoA transferase 2B Neighboring gene STARR-positive B cell enhancer ABC_E8988 Neighboring gene peptidylprolyl isomerase E (cyclophilin E) Neighboring gene STARR-seq mESC enhancer starr_11286 Neighboring gene STARR-positive B cell enhancer ABC_E10256 Neighboring gene hippocalcin-like 4

    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)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    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
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in diet induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in germ cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    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 8B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007559.5NP_031585.2  bone morphogenetic protein 8B preproprotein

      See identical proteins and their annotated locations for NP_031585.2

      Status: REVIEWED

      Source sequence(s)
      AK082895, AL606934, BQ031736, BQ551035
      Consensus CDS
      CCDS18608.1
      UniProtKB/Swiss-Prot
      P55105, Q8BNM2
      Related
      ENSMUSP00000002457.2, ENSMUST00000002457.2
      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
      122998101..123019887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240420.2XP_011238722.1  bone morphogenetic protein 8B isoform X1

      Conserved Domains (3) summary
      pfam00688
      Location:47228
      TGFb_propeptide; TGF-beta propeptide
      pfam15180
      Location:252
      NPBW; Neuropeptides B and W
      cl40434
      Location:275379
      TGF_beta_SF; transforming growth factor beta (TGF-beta) like domain found in TGF-beta superfamily