BMPR2 Gene: Bone Morphogenetic Protein Receptor Type 2
Key regulator in pulmonary hypertension and vascular biology
Gene Information Card
| Symbol | BMPR2 |
|---|---|
| Full Name | Bone morphogenetic protein receptor type 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1-q33.2 |
| NCBI Gene ID | 659 ncbi.nlm.nih.gov/gene/659 |
| Ensembl ID | ENSG00000204217 |
| UniProt ID | Q13873 |
| OMIM ID | 600799 |
| HGNC ID | 1078 |
| Aliases | BMPR-II, BMPR3, PPH1, T-ALK |
Description
The BMPR2 gene encodes bone morphogenetic protein receptor type 2, a serine/threonine receptor kinase that binds bone morphogenetic proteins (BMPs) and regulates cellular proliferation, differentiation, and apoptosis. It is critical for vascular homeostasis, particularly in pulmonary endothelial and smooth muscle cells. Mutations in BMPR2 are the most common genetic cause of heritable pulmonary arterial hypertension (PAH).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary arterial hypertension (PAH) | Loss-of-function mutations lead to reduced BMPR2 signaling, causing endothelial dysfunction and smooth muscle proliferation in pulmonary arteries. | OMIM 600799; ClinVar |
| Hereditary hemorrhagic telangiectasia (HHT) | Rare BMPR2 mutations may contribute to vascular malformations, though less common than in PAH. | OMIM 600799; literature |
| Cancer (various) | Altered BMPR2 expression may affect tumor progression in some cancers, but evidence is limited. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | High | High |
| Heart | Medium | Medium |
| Vascular endothelium | High | High |
| Smooth muscle | Medium | Medium |
| Brain | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Pulmonary artery endothelial cells (HPAEC) | High | Key site of BMPR2 action |
| Pulmonary artery smooth muscle cells (HPASMC) | Medium | Expressed but lower than endothelium |
| HEK293 | Medium | Commonly used for recombinant studies |
| HeLa | Low | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1472C>T (p.Pro491Leu) | Missense | ~5% of heritable PAH | Impairs receptor kinase activity |
| c.994C>T (p.Arg332Ter) | Nonsense | ~3% of heritable PAH | Truncated protein, loss of function |
| c.2617C>T (p.Arg873Ter) | Nonsense | ~2% of heritable PAH | Premature stop, loss of function |
| c.1129delA (p.Thr377ProfsTer) | Frameshift | Rare | Loss of function due to truncation |
Mutation functional classification
Loss of Function (LOF)
Most BMPR2 mutations are loss-of-function, leading to haploinsufficiency or dominant-negative effects, reducing BMP signaling.
Gain of Function (GOF)
No clear gain-of-function mutations reported; BMPR2 is primarily a tumor suppressor in vascular context.
Dominant Negative (DN)
Some missense mutations in the kinase domain exert dominant-negative effects by forming inactive heterodimers with wild-type receptors.
View complete mutation data：
Gene Ontology (GO)
| • BMP receptor activity | • ATP binding |
| • Protein serine/threonine kinase activity | • Transmembrane receptor protein serine/threonine kinase signaling pathway |
| • Cellular response to BMP stimulus | • Positive regulation of apoptosis |
| • Negative regulation of cell proliferation |
Pathways
• BMP signaling pathway
• TGF-beta signaling pathway
• Cytokine-cytokine receptor interaction
• Regulation of actin cytoskeleton
Protein Summary
BMPR2 is a type II receptor for bone morphogenetic proteins. It forms heteromeric complexes with type I receptors (e.g., BMPR1A/B) upon ligand binding, leading to phosphorylation of SMAD1/5/8 and subsequent transcriptional regulation. It is essential for vascular integrity; loss of function predisposes to pulmonary arterial hypertension.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMPR2 Knockout HEK293 Cell Line | EDJ-KQ373 | Human | 659 | Details Get a Quote |
| BMPR2 Knockout HeLa Cell Line | EDJ-KQ18311 | Human | 659 | Details Get a Quote |
| BMPR2 Knockout A-549 Cell Line | EDJ-KQ18572 | Human | 659 | Details Get a Quote |
| BMPR2 Knockout HCT 116 Cell Line | EDJ-KQ18573 | Human | 659 | Details Get a Quote |
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