BMPR2
Chr 2ADbone morphogenetic protein receptor type 2
Also known as: BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
The protein is a transmembrane serine/threonine kinase receptor that binds bone morphogenetic proteins and activins to regulate SMAD transcriptional pathways involved in bone formation, embryogenesis, and adipogenesis. Mutations cause primary pulmonary hypertension (both familial and sporadic forms) and pulmonary veno-occlusive disease with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, reflecting its essential role in vascular development.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function, gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BMPR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
RECRUITINGPhase 2 Study Assessing Secured Access to Vemurafenib for Patients With Tumors Harboring BRAF Genomic Alterations
ACTIVE NOT RECRUITINGEvaluation of the BMPR2-Activin Signaling Pathway in Group II Pulmonary Hypertension.
RECRUITINGLevels of Circulating Tumor DNA as a Predictive Marker for Early Switch in Treatment for Patients With Metastatic (Stage IV) Breast Cancer
ACTIVE NOT RECRUITINGGenes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
RECRUITINGRight Ventricle Lipid in Pulmonary Arterial Hypertension (PAH)
RECRUITINGEvolutionary Clinical Trial for Novel Biomarker-Driven Therapies
RECRUITINGExternal Resources
Links to major genomics databases and tools