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

Gene ID: 12164, updated on 27-Nov-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
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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)

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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_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