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BMP10 bone morphogenetic protein 10 [ Homo sapiens (human) ]

Gene ID: 27302, updated on 8-Jul-2021

Summary

Official Symbol
BMP10provided by HGNC
Official Full Name
bone morphogenetic protein 10provided by HGNC
Primary source
HGNC:HGNC:20869
See related
Ensembl:ENSG00000163217 MIM:608748
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 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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]
Expression
Restricted expression toward heart (RPKM 211.3) See more
Orthologs
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Genomic context

See BMP10 in Genome Data Viewer
Location:
2p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (68860909..68871397, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69088041..69098529, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr2.2482 Neighboring gene long intergenic non-protein coding RNA 1890 Neighboring gene long intergenic non-protein coding RNA 1888 Neighboring gene uncharacterized LOC105374792 Neighboring gene VISTA enhancer hs2511 Neighboring gene uncharacterized LOC107985894

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126783

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
enables hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables receptor serine/threonine kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables telethonin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adult heart development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in atrial cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell proliferation involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression 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 positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of sarcomere organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cardiac muscle hypertrophy in response to stress IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular cardiac muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in ventricular cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
bone morphogenetic protein 10

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.

Genomic

  1. NG_032117.1 RefSeqGene

    Range
    5001..11037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_403

mRNA and Protein(s)

  1. NM_014482.3NP_055297.1  bone morphogenetic protein 10 preproprotein

    See identical proteins and their annotated locations for NP_055297.1

    Status: REVIEWED

    Source sequence(s)
    AC097495, AF101441
    Consensus CDS
    CCDS1890.1
    UniProtKB/Swiss-Prot
    O95393
    Related
    ENSP00000295379.1, ENST00000295379.2
    Conserved Domains (2) summary
    pfam00019
    Location:321423
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:55256
    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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    68860909..68871397 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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