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 ac... See more...

Aliases for BMP10 Gene

Aliases for BMP10 Gene

  • Bone Morphogenetic Protein 10 2 3 4 5
  • BMP-10 4
  • BMP10 5

External Ids for BMP10 Gene

Previous GeneCards Identifiers for BMP10 Gene

  • GC02M069104
  • GC02M069290
  • GC02M069067
  • GC02M069004
  • GC02M069092
  • GC02M068828

Summaries for BMP10 Gene

Entrez Gene Summary for BMP10 Gene

  • 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]

GeneCards Summary for BMP10 Gene

BMP10 (Bone Morphogenetic Protein 10) is a Protein Coding gene. Diseases associated with BMP10 include Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome and Right Atrial Isomerism. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include cytokine activity and hormone activity. An important paralog of this gene is GDF2.

UniProtKB/Swiss-Prot Summary for BMP10 Gene

  • 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 MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines.

Gene Wiki entry for BMP10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP10 Gene

Genomics for BMP10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMP10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J068871 Enhancer 0.9 Ensembl dbSUPER 250.7 +1.1 1096 1.4 ZNF592 NFATC3 ELF1 ZNF316 ATF1 STAT5A SMARCA4 ETV1 FOXM1 FOXK2 BMP10 LINC01888 ANXA4 lnc-ARHGAP25-2 ARHGAP25
GH02J068872 Enhancer 0.3 dbSUPER 250.7 -1.1 -1086 0.9 PKNOX1 BMP10 LINC01888 LOC105374792 GKN2
GH02J068873 Enhancer 0.2 dbSUPER 250.7 -1.8 -1766 0.4 BMP10 LINC01888 LOC105374792 GKN2
GH02J068805 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +62.4 62396 8.4 MYC ZNF592 REST CEBPB FEZF1 EP300 NFE2 RELA ZKSCAN1 PKNOX1 PLEK LINC01888 BMP10 DNAAF10 ARHGAP25 LINC01890 FBXO48 APLF HSALNG0015711
GH02J068906 Enhancer 1.1 ENCODE dbSUPER 11.9 -36.8 -36757 2.8 ZNF592 POLR2A CEBPB SMAD5 DEK ELK1 BHLHE40 TBP MAX EP300 BMP10 LINC01888 APLF FBXO48 GKN2 HSALNG0015718 lnc-GKN2-1 LOC107985894 HSALNG0015717
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP10

Top Transcription factor binding sites by QIAGEN in the BMP10 gene promoter:
  • Brachyury
  • HOXA5
  • HSF2
  • Meis-1b
  • Nkx2-5

Genomic Locations for BMP10 Gene

Latest Assembly
chr2:68,860,909-68,871,397
(GRCh38/hg38)
Size:
10,489 bases
Orientation:
Minus strand

Previous Assembly
chr2:69,088,041-69,098,529
(GRCh37/hg19 by Entrez Gene)
Size:
10,489 bases
Orientation:
Minus strand

chr2:69,092,613-69,098,649
(GRCh37/hg19 by Ensembl)
Size:
6,037 bases
Orientation:
Minus strand

Genomic View for BMP10 Gene

Genes around BMP10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP10 Gene

Proteins for BMP10 Gene

  • Protein details for BMP10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95393-BMP10_HUMAN
    Recommended name:
    Bone morphogenetic protein 10
    Protein Accession:
    O95393
    Secondary Accessions:
    • Q53R17
    • Q6NTE0

    Protein attributes for BMP10 Gene

    Size:
    424 amino acids
    Molecular mass:
    48047 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631). Interacts with ENG (PubMed:21737454).

    Three dimensional structures from OCA and Proteopedia for BMP10 Gene

neXtProt entry for BMP10 Gene

Post-translational modifications for BMP10 Gene

  • Glycosylation at Asn67 and Asn131
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMP10 Gene

Domains & Families for BMP10 Gene

Gene Families for BMP10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for BMP10 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature

Suggested Antigen Peptide Sequences for BMP10 Gene

GenScript: Design optimal peptide antigens:
  • Bone morphogenetic protein 10 (BMP10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95393

UniProtKB/Swiss-Prot:

BMP10_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP10: view

Function for BMP10 Gene

Molecular function for BMP10 Gene

UniProtKB/Swiss-Prot 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 MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines.
UniProtKB/Swiss-Prot Induction:
Down-regulated in some breast cancer subtypes and breast cancer cell lines.

LifeMap Function Summary for BMP10 Gene

It affects the following cells:

Phenotypes From GWAS Catalog for BMP10 Gene

Gene Ontology (GO) - Molecular Function for BMP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005179 hormone activity IDA 17921333
GO:0005515 protein binding IPI 17068149
GO:0008083 growth factor activity IEA --
GO:0031433 telethonin binding IPI 17921333
genes like me logo Genes that share ontologies with BMP10: view
genes like me logo Genes that share phenotypes with BMP10: view

Animal Models for BMP10 Gene

MGI Knock Outs for BMP10:
  • Bmp10 Bmp10<tm1.1(Gdf2)Minh>
  • Bmp10 Bmp10<tm3b(EUCOMM)Hmgu>
  • Bmp10 Bmp10<tm1Shou>

Animal Models for research

  • Taconic Biosciences Mouse Models for BMP10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP10

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMP10 Gene

Localization for BMP10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP10 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP10 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for BMP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 17921333
GO:0005737 cytoplasm IDA 17921333
GO:0009986 cell surface IDA 17921333
GO:0030018 Z disc IDA 17921333
genes like me logo Genes that share ontologies with BMP10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP10 Gene

Pathways & Interactions for BMP10 Gene

PathCards logo

SuperPathways for BMP10 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
.40
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with BMP10: view

Pathways by source for BMP10 Gene

1 BioSystems pathway for BMP10 Gene
1 KEGG pathway for BMP10 Gene
71 Qiagen pathways for BMP10 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for BMP10 Gene

Activates:

Gene Ontology (GO) - Biological Process for BMP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0007507 heart development IEA --
GO:0007512 adult heart development IEA,ISS 10072785
genes like me logo Genes that share ontologies with BMP10: view

Drugs & Compounds for BMP10 Gene

(1) Drugs for BMP10 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalantercept Investigational Pharma inhibitor ALK1 inhibitor 0
genes like me logo Genes that share compounds with BMP10: view

Transcripts for BMP10 Gene

mRNA/cDNA for BMP10 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP10

Alternative Splicing Database (ASD) splice patterns (SP) for BMP10 Gene

No ASD Table

Relevant External Links for BMP10 Gene

GeneLoc Exon Structure for
BMP10

Expression for BMP10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP10 Gene

mRNA differential expression in normal tissues according to GTEx for BMP10 Gene

This gene is overexpressed in Heart - Atrial Appendage (x52.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP10

SOURCE GeneReport for Unigene cluster for BMP10 Gene:

Hs.158317

mRNA Expression by UniProt/SwissProt for BMP10 Gene:

O95393-BMP10_HUMAN
Tissue specificity: Detected in mammary epithelia (at protein level).

Evidence on tissue expression from TISSUES for BMP10 Gene

  • Nervous system(4.3)
  • Heart(3.7)
  • Muscle(3.4)
genes like me logo Genes that share expression patterns with BMP10: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP10 Gene

Orthologs for BMP10 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BMP10 29 30
  • 99.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BMP10 29 30
  • 87.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BMP10 29 30
  • 87.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bmp10 29 16 30
  • 83.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bmp10 29
  • 82.9 (n)
Oppossum
(Monodelphis domestica)
Mammalia BMP10 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BMP10 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BMP-10 30
  • 74 (a)
OneToOne
BMP10 29
  • 72.66 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bmp10 29
  • 66.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii bmp10 29 30
  • 62.01 (n)
OneToMany
BMP10 (1 of 2) 30
  • 44 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta gbb 30
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dbl-1 29 30
  • 43.52 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToMany
Species where no ortholog for BMP10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BMP10 Gene

ENSEMBL:
Gene Tree for BMP10 (if available)
TreeFam:
Gene Tree for BMP10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMP10: view image
Alliance of Genome Resources:
Additional Orthologs for BMP10

Paralogs for BMP10 Gene

(2) SIMAP similar genes for BMP10 Gene using alignment to 1 proteins:

  • BMP10_HUMAN
genes like me logo Genes that share paralogs with BMP10: view

Variants for BMP10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP10 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2231345 Benign: not provided 68,866,156(-) G/Tp.Asn250Lys
NM_014482.3(BMP10):c.750C>A (p.Asn250Lys)
MISSENSE
rs2231342 -- p.Thr200Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMP10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for BMP10 Gene

Residual Variation Intolerance Score: 55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP10 Gene

Human Gene Mutation Database (HGMD)
BMP10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP10
Leiden Open Variation Database (LOVD)
BMP10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BMP10 Gene

Disorders for BMP10 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BMP10 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • jpht
right atrial isomerism
  • rai
telangiectasis
  • telangiectasia
breast cancer
  • breast cancer, familial
double outlet right ventricle
  • dextrotransposition of aorta
- elite association - COSMIC cancer census association via MalaCards
Search BMP10 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BMP10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP10 Gene

Publications for BMP10 Gene

  1. Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth. (PMID: 21737454) Castonguay R … Grinberg AV (The Journal of biological chemistry 2011) 3 4
  2. Bone morphogenetic protein-10 (BMP-10) inhibits aggressiveness of breast cancer cells and correlates with poor prognosis in breast cancer. (PMID: 20608934) Ye L … Jiang WG (Cancer science 2010) 3 4
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 40
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40

Products for BMP10 Gene

Sources for BMP10 Gene