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BMP8A bone morphogenetic protein 8a [ Homo sapiens (human) ]

Gene ID: 353500, updated on 13-Mar-2020

Summary

Official Symbol
BMP8Aprovided by HGNC
Official Full Name
bone morphogenetic protein 8aprovided by HGNC
Primary source
HGNC:HGNC:21650
See related
Ensembl:ENSG00000183682
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
OP-2
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. This protein may play a role in development of the reproductive system. 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
Biased expression in thyroid (RPKM 57.4) and endometrium (RPKM 2.6) See more
Orthologs

Genomic context

See BMP8A in Genome Data Viewer
Location:
1p34.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (39491626..39529869)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39957318..39995541)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microtubule actin crosslinking factor 1 Neighboring gene MACF1 eExon liver enhancer Neighboring gene KIAA0754 Neighboring gene tRNA-Lys (anticodon CTT) 12-1 Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1 Neighboring gene peptidylprolyl isomerase E like pseudogene Neighboring gene PABPC4 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene hes related family bHLH transcription factor with YRPW motif like

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?

General gene information

Markers

Homology

Clone Names

  • FLJ14351, FLJ45264

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
 
diet induced thermogenesis IDA
Inferred from Direct Assay
more info
PubMed 
energy homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of insulin secretion IDA
Inferred from Direct Assay
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 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
bone morphogenetic protein 8A
Names
BMP-8A

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_181809.4NP_861525.2  bone morphogenetic protein 8A preproprotein

    See identical proteins and their annotated locations for NP_861525.2

    Status: REVIEWED

    Source sequence(s)
    AL365277, AY303954, BU616301
    Consensus CDS
    CCDS437.1
    UniProtKB/Swiss-Prot
    Q7Z5Y6
    Related
    ENSP00000327440.5, ENST00000331593.6
    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
    39491626..39529869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710616.3XP_006710679.1  bone morphogenetic protein 8A isoform X1

    Conserved Domains (1) summary
    pfam00688
    Location:33226
    TGFb_propeptide; TGF-beta propeptide
  2. XM_017001198.2XP_016856687.1  bone morphogenetic protein 8A isoform X2

  3. XM_011541381.2XP_011539683.1  bone morphogenetic protein 8A isoform X3

    Conserved Domains (1) summary
    pfam00688
    Location:33224
    TGFb_propeptide; TGF-beta propeptide
  4. XM_011541382.2XP_011539684.1  bone morphogenetic protein 8A isoform X4

    Conserved Domains (1) summary
    pfam00688
    Location:33230
    TGFb_propeptide; TGF-beta propeptide

RNA

  1. XR_946641.2 RNA Sequence

  2. XR_946640.2 RNA Sequence

  3. XR_946642.2 RNA Sequence

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