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

    Gene ID: 656, updated on 26-Sep-2021

    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
    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
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    Genomic context

    See BMP8B in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (39757182..39788865, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40222854..40254537, 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 BMP8B antisense RNA 1 Neighboring gene uncharacterized LOC101929536 Neighboring gene uncharacterized LOC105378951 Neighboring gene long intergenic non-protein coding RNA 2811

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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
    enables BMP receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal system development 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
    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)

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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_001720.5NP_001711.2  bone morphogenetic protein 8B preproprotein

      See identical proteins and their annotated locations for NP_001711.2

      Status: REVIEWED

      Source sequence(s)
      AL033527, AY303955, BC023526, BC080618
      Consensus CDS
      CCDS444.1
      UniProtKB/Swiss-Prot
      P34820
      Related
      ENSP00000361915.3, ENST00000372827.8
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      39757182..39788865 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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