BMP10 Gene - Bone Morphogenetic Protein 10
Key regulator of cardiac development and vascular homeostasis
Gene Information Card
| Symbol | BMP10 |
|---|---|
| Full Name | Bone Morphogenetic Protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 27302 ncbi.nlm.nih.gov/gene/27302 |
| Ensembl ID | ENSG00000163217 |
| UniProt ID | O95393 |
| OMIM ID | 608748 |
| HGNC ID | 1075 |
| Aliases | BMP-10 |
Description
BMP10 (Bone Morphogenetic Protein 10) is a member of the transforming growth factor-beta (TGF-β) superfamily. It plays a critical role in cardiac development, particularly in the formation of the heart chambers and valves, and is involved in vascular homeostasis. Mutations in BMP10 are associated with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia (HHT) | Loss-of-function mutations in BMP10 impair TGF-β signaling in endothelial cells, leading to vascular malformations. | ClinVar, OMIM |
| Pulmonary Arterial Hypertension (PAH) | BMP10 variants disrupt BMPR2 signaling, contributing to vascular remodeling and increased pulmonary pressure. | ClinVar, OMIM |
| Cardiac Septal Defects | BMP10 deficiency alters cardiac morphogenesis, potentially leading to atrial or ventricular septal defects. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Liver | 0.8 | Low |
| Lung | 1.2 | Low |
| Skeletal Muscle | 0.5 | Low |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.0 | High expression in primary endothelial cells |
| Cardiomyocytes (iPSC-derived) | 8.5 | Moderate expression |
| HEK293 | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; associated with HHT |
| c.1120G>A (p.Gly374Ser) | Missense | <0.01% | Impaired protein secretion; linked to PAH |
| c.1462_1463del (p.Leu488fs) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated BMP10 protein, reducing TGF-β signaling and causing HHT.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by interfering with receptor binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-β signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
BMP10 is a secreted ligand of the TGF-β superfamily. It binds to type I and type II BMP receptors, activating SMAD1/5/8 signaling. The protein is essential for embryonic cardiac development and postnatal vascular integrity. Mature BMP10 forms homodimers and is processed from a precursor into a bioactive C-terminal domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP10 Knockout HEK293 Cell Line | EDJ-KQ8000 | Human | 27302 | Details Get a Quote |
| BMP10 Knockout HeLa Cell Line | EDJ-KQ56054 | Human | 27302 | Details Get a Quote |
| BMP10 Knockout A-549 Cell Line | EDJ-KQ64538 | Human | 27302 | Details Get a Quote |
| BMP10 Knockout HCT 116 Cell Line | EDJ-KQ72996 | Human | 27302 | Details Get a Quote |
