BMP10 (bone morphogenetic protein 10)

Gene

• Entrez ID: 27302
• Gene name: Bone morphogenetic protein 10
• Gene symbol: BMP10
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2p13.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT635694	hsa-miR-8485	HITS-CLIP	23824327
MIRT635695	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT635693	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT635692	hsa-miR-603	HITS-CLIP	23824327
MIRT635690	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT635691	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT635688	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT635689	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635687	hsa-miR-3941	HITS-CLIP	23824327
MIRT635686	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT635694	hsa-miR-8485	HITS-CLIP	23824327
MIRT635695	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT635693	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT635692	hsa-miR-603	HITS-CLIP	23824327
MIRT635690	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT635691	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT635688	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT635689	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635687	hsa-miR-3941	HITS-CLIP	23824327
MIRT635686	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT735938	hsa-miR-181a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31713441
MIRT635694	hsa-miR-8485	HITS-CLIP	23824327
MIRT635695	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT635693	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT635692	hsa-miR-603	HITS-CLIP	23824327
MIRT635690	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT635691	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT635688	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT635689	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635687	hsa-miR-3941	HITS-CLIP	23824327
MIRT635686	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT635694	hsa-miR-8485	HITS-CLIP	23824327
MIRT635695	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT635693	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT635692	hsa-miR-603	HITS-CLIP	23824327
MIRT635690	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT635691	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT635688	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT635689	hsa-miR-96-3p	HITS-CLIP	23824327
MIRT635687	hsa-miR-3941	HITS-CLIP	23824327
MIRT635686	hsa-miR-377-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005179	Function	Hormone activity	IDA	17921333
GO:0005515	Function	Protein binding	IPI	17068149, 17921333, 18339631, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	17921333
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	17921333
GO:0007155	Process	Cell adhesion	IEA
GO:0007507	Process	Heart development	IEA
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	ISS	10072785
GO:0008083	Function	Growth factor activity	IDA	19903896
GO:0008083	Function	Growth factor activity	IEA
GO:0009986	Component	Cell surface	IDA	17921333
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17068149
GO:0010611	Process	Regulation of cardiac muscle hypertrophy	IEA
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IEA
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IMP	17921333
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030018	Component	Z disc	IDA	17921333
GO:0030308	Process	Negative regulation of cell growth	IDA	17068149
GO:0030336	Process	Negative regulation of cell migration	IDA	17068149
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IDA	16049014, 17068149, 19903896
GO:0030509	Process	BMP signaling pathway	IEA
GO:0031433	Function	Telethonin binding	IPI	17921333
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014, 17068149
GO:0033612	Function	Receptor serine/threonine kinase binding	IDA	17068149
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014, 17068149
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS	10072785
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS	10072785
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	ISS	10072785
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	17921333
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS	10072785
GO:0060298	Process	Positive regulation of sarcomere organization	IDA	17921333
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060347	Process	Heart trabecula formation	ISS
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014, 17068149, 19903896
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:1903242	Process	Regulation of cardiac muscle hypertrophy in response to stress	IDA	17921333
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	IEA
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	ISS

Other IDs

• MIM: 608748
• HGNC: 20869
• e!Ensembl: ENSG00000163217

Protein

• UniProt ID: O95393
• Protein name: Bone morphogenetic protein 10 (BMP-10)
• Protein function: Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as M
• PDB: 6SF1, 6SF3, 7PPA, 7PPB, 7PPC, 9DPY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	51 → 256	TGF-beta propeptide	Family
  PF00019	TGF_beta	322 → 423	Transforming growth factor beta like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in mammary epithelia (at protein level). {ECO:0000269|PubMed:20608934}.
• Sequence:

  MGSLVLTLCALFCLAAYLVSGSPIMNLEQSPLEEDMSLFGDVFSEQDGVDFNTLLQSMKD
  EFLKTLNLSDIPTQDSAKVDPPEYMLELYNKFATDRTSMPSANIIRSFKNEDLFSQPVSF
  NGLRKYPLLFNVSIPHHEEVIMAELRLYTLVQRDRMIYDGVDRKITIFEVLESKGDNEGE
  RNMLVLVSGEIYGTNSEWETFDVTDAIRRWQKSGSSTHQLEVHIESKHDEAEDASSGRLE
  IDTSAQNKHNPLLIVFSDDQSSDKERKEELNEMISHEQLPELDNLGLDSFSSGPGEEALL
  QMRSNIIYDSTARIRRNAKGNYCKRTPLYIDFKEIGWDSWIIAPPGYEAYECRGVCNYPL
  AEHLTPTKHAIIQALVHLKNSQKASKACCVPTKLEPISILYLDKGVVTYKFKYEGMAVSE
  CGCR

• Sequence length: 424

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Reactome:

Signaling by BMP
Molecules associated with elastic fibres

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Bladder exstrophy-epispadias-cloacal extrophy complex	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, SYSTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23645739		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20608934, 23645739		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	31967847	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23645739		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30401582		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	31828546		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31712309		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35737725	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31712309		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24551273, 31417183		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24551273	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31967847	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17921333, 26631724, 30636542		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31661308		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31417183		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20608934, 23645739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30401582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20608934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23645739		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20608934, 30401582		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36717825	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20608934, 23645739, 30165893, 31417183		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30401582		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20608934		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30578383, 31661308, 33187088, 33834622, 38184627	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31661308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37083575	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31112136		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31112136		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26419594	Inhibit	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	33834622, 37695357	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	26631724		★☆☆☆☆ Found in Text Mining only