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    BMP8B bone morphogenetic protein 8b [ Homo sapiens (human) ]

    Gene ID: 656, updated on 5-Aug-2018

    Summary

    Official Symbol
    BMP8Bprovided by HGNC
    Official Full Name
    bone morphogenetic protein 8bprovided by HGNC
    Primary source
    HGNC:HGNC:1075
    See related
    Ensembl:ENSG00000116985 MIM:602284; Vega:OTTHUMG00000009247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OP2; BMP8
    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 stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in thyroid (RPKM 7.4), adrenal (RPKM 2.8) and 20 other tissues See more
    Orthologs

    Genomic context

    See BMP8B in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (39757182..39788861, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40223903..40254533, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 25 pseudogene Neighboring gene RNA, U7 small nuclear 121 pseudogene Neighboring gene peptidylprolyl isomerase E Neighboring gene 3-oxoacid CoA-transferase 2 Neighboring gene uncharacterized LOC105378666 Neighboring gene uncharacterized LOC101929536 Neighboring gene uncharacterized LOC105378951 Neighboring gene uncharacterized LOC107985740

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC131757

    Gene Ontology Provided by GOA

    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 
    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 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    bone morphogenetic protein 8B
    Names
    bone morphogenetic protein 8 (osteogenic protein 2)
    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_001720.4NP_001711.2  bone morphogenetic protein 8B preproprotein

      See identical proteins and their annotated locations for NP_001711.2

      Status: REVIEWED

      Source sequence(s)
      AY303955, BC023526, BC080618
      Consensus CDS
      CCDS444.1
      UniProtKB/Swiss-Prot
      P34820
      Related
      ENSP00000361915.3, OTTHUMP00000010836, ENST00000372827.7, OTTHUMT00000025641
      Conserved Domains (2) summary
      pfam00019
      Location:299401
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:33251
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      39757182..39788861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542024.2XP_011540326.2  bone morphogenetic protein 8B isoform X1

    2. XM_011542022.2XP_011540324.1  bone morphogenetic protein 8B isoform X3

      Conserved Domains (2) summary
      pfam00019
      Location:299353
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:33251
      TGFb_propeptide; TGF-beta propeptide
    3. XM_017002155.1XP_016857644.1  bone morphogenetic protein 8B isoform X2

    4. XM_024449299.1XP_024305067.1  bone morphogenetic protein 8B isoform X4

      Conserved Domains (2) summary
      pfam00019
      Location:206258
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:17156
      TGFb_propeptide; TGF-beta propeptide
    5. XM_011542025.2XP_011540327.1  bone morphogenetic protein 8B isoform X7

      Conserved Domains (1) summary
      pfam00688
      Location:33230
      TGFb_propeptide; TGF-beta propeptide
    6. XM_005271149.4XP_005271206.1  bone morphogenetic protein 8B isoform X6

      Conserved Domains (1) summary
      pfam00688
      Location:33224
      TGFb_propeptide; TGF-beta propeptide
    7. XM_017002156.1XP_016857645.1  bone morphogenetic protein 8B isoform X5

    RNA

    1. XR_946748.2 RNA Sequence

    2. XR_946749.2 RNA Sequence

    3. XR_946750.2 RNA Sequence

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