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

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; 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: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (68860909..68871397, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (68873354..68883842, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (69088041..69098529, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
BMP9 and BMP10: Two close vascular quiescence partners that stand out.
Title: BMP9 and BMP10: Two close vascular quiescence partners that stand out.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BMP10_720 (e-PCR)
- UniSTS:277033

BMP10_V88 (e-PCR)
- UniSTS:277033

NoName (e-PCR)
- UniSTS:483194

NoName (e-PCR)
- UniSTS:481522

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

NG_032117.1 RefSeqGene

Range

5001..11037

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_403

mRNA and Protein(s)

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