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

Gene ID: 27302, updated on 16-Apr-2024

Summary

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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; AllianceGenome:HGNC:20869
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

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Location:
2p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68860909..68871397, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68873354..68883842, complement)
105.20220307 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 Rho GTPase activating protein 25 Neighboring gene uncharacterized LOC105374790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69042669-69043169 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 ReSE screen-validated silencer GRCh37_chr2:69098345-69098505 Neighboring gene uncharacterized LOC105374792 Neighboring gene VISTA enhancer hs2511 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:69134837-69136036 Neighboring gene gastrokine 3, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bone Morphogenetic Protein 10-A Novel Biomarker to Predict Adverse Outcomes in Patients With Atrial Fibrillation. Hennings E, et al. J Am Heart Assoc, 2023 Mar 21. PMID 36926939, Free PMC Article
  2. Bone morphogenetic protein 10: a novel risk marker of ischaemic stroke in patients with atrial fibrillation. Hijazi Z, et al. Eur Heart J, 2023 Jan 14. PMID 36380569, Free PMC Article
  3. BMP10 preserves cardiac function through its dual activation of SMAD-mediated and STAT3-mediated pathways. Qu X, et al. J Biol Chem, 2019 Dec 27. PMID 31712309, Free PMC Article
  4. Loss of BMP-10 is correlated with poor survival in ovarian cancer. Jin Y, et al. Pathol Res Pract, 2019 Jan. PMID 30401582
  5. BMP10 inhibited the growth and migration of gastric cancer cells. Lei H, et al. Tumour Biol, 2016 Mar. PMID 26419594

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Repeated Measurement of the Novel Atrial Biomarker BMP10 (Bone Morphogenetic Protein 10) Refines Risk Stratification in Anticoagulated Patients With Atrial Fibrillation: Insights From the ARISTOTLE Trial.
    Title: Repeated Measurement of the Novel Atrial Biomarker BMP10 (Bone Morphogenetic Protein 10) Refines Risk Stratification in Anticoagulated Patients With Atrial Fibrillation: Insights From the ARISTOTLE Trial.
  2. Bone Morphogenetic Protein 10-A Novel Biomarker to Predict Adverse Outcomes in Patients With Atrial Fibrillation.
    Title: Bone Morphogenetic Protein 10-A Novel Biomarker to Predict Adverse Outcomes in Patients With Atrial Fibrillation.
  3. Bone morphogenetic protein 10: a novel risk marker of ischaemic stroke in patients with atrial fibrillation.
    Title: Bone morphogenetic protein 10: a novel risk marker of ischaemic stroke in patients with atrial fibrillation.
  4. Crystal structures of BMPRII extracellular domain in binary and ternary receptor complexes with BMP10.
    Title: Crystal structures of BMPRII extracellular domain in binary and ternary receptor complexes with BMP10.
  5. BMP9 and BMP10: Two close vascular quiescence partners that stand out.
    Title: BMP9 and BMP10: Two close vascular quiescence partners that stand out.
  6. Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an ""HHT-like"" syndrome in children.
    Title: Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
  7. BMP9 and BMP10 Act Directly on Vascular Smooth Muscle Cells for Generation and Maintenance of the Contractile State.
    Title: BMP9 and BMP10 Act Directly on Vascular Smooth Muscle Cells for Generation and Maintenance of the Contractile State.
  8. Plasma levels of apelin are reduced in patients with liver fibrosis and cirrhosis but are not correlated with circulating levels of bone morphogenetic protein 9 and 10.
    Title: Plasma levels of apelin are reduced in patients with liver fibrosis and cirrhosis but are not correlated with circulating levels of bone morphogenetic protein 9 and 10.
  9. Endothelial protective factors BMP9 and BMP10 inhibit CCL2 release by human vascular endothelial cells.
    Title: Endothelial protective factors BMP9 and BMP10 inhibit CCL2 release by human vascular endothelial cells.
  10. Reduced left atrial cardiomyocyte PITX2 and elevated circulating BMP10 predict atrial fibrillation after ablation.
    Title: Reduced left atrial cardiomyocyte PITX2 and elevated circulating BMP10 predict atrial fibrillation after ablation.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables growth factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
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
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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 positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
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 sarcomere organization 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
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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_014482.3 → NP_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, Q53R17, Q6NTE0
    Related
    ENSP00000295379.1, ENST00000295379.2
    Conserved Domains (2) summary
    pfam00019
    Location:321 → 423
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:55 → 256
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    68873354..68883842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95393.1 GenPept UniProtKB/Swiss-Prot:O95393

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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