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

Gene ID: 656, updated on 1-Jun-2020

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

Genomic context

See BMP8B in Genome Data Viewer
Location:
1p34.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (39757182..39788865, 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 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
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
 
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 differentiation IEA
Inferred from Electronic Annotation
more info
 
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 
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_001720.5NP_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.

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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