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

Gene ID: 353500, updated on 8-May-2016
Official Symbol
BMP8Aprovided by HGNC
Official Full Name
bone morphogenetic protein 8aprovided by HGNC
Primary source
HGNC:HGNC:21650
See related
Ensembl:ENSG00000183682 HPRD:16555
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
Summary
This gene encodes a member of the transforming growth factor beta superfamily of regulatory proteins. The encoded preproprotein undergoes proteolytic processing to generate the mature protein. Studies in laboratory mice suggest that 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, Nov 2015]
Orthologs
Location:
1p34.3
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (39491634..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 heat shock protein family E (Hsp10) member 1 pseudogene 8 Neighboring gene KIAA0754 Neighboring gene mitogen-activated protein kinase 7-like Neighboring gene transfer RNA-Lys (CTT) 12-1 Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1 Neighboring gene uncharacterized LOC101929516 Neighboring gene peptidylprolyl isomerase E like pseudogene Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene hes related family bHLH transcription factor with YRPW motif-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
diet induced thermogenesis IDA
Inferred from Direct Assay
more info
PubMed 
growth IEA
Inferred from Electronic Annotation
more info
 
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
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of energy homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
bone morphogenetic protein 8A
Names
BMP-8A

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_181809.3NP_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, OTTHUMP00000010046, ENST00000331593, OTTHUMT00000023079
    Conserved Domains (2) summary
    smart00204
    Location:301402
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:33251
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    39491634..39529869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710616.2XP_006710679.1  

    Conserved Domains (1) summary
    pfam00688
    Location:33229
    TGFb_propeptide; TGF-beta propeptide
  2. XM_011541381.1XP_011539683.1  

    Conserved Domains (1) summary
    pfam00688
    Location:33225
    TGFb_propeptide; TGF-beta propeptide
  3. XM_011541382.1XP_011539684.1  

    Conserved Domains (1) summary
    pfam00688
    Location:33224
    TGFb_propeptide; TGF-beta propeptide

RNA

  1. XR_946641.1 RNA Sequence

  2. XR_946640.1 RNA Sequence

  3. XR_946642.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    40073204..40111431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)