BMPR2 (Q13873) variants and mutations

BMPR2 (also known as Q13873) is a human protein-coding gene encoding a bone morphogenetic protein receptor type-2 protein. It initiates BMP signaling in vascular cells and helps maintain normal pulmonary-artery structure and endothelial function. Heterozygous loss-of-function variants are the most common known genetic cause of heritable pulmonary arterial hypertension. This analysis covers 1,426 BMPR2 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes pulmonary hypertension, primary, 1, pulmonary arterial hypertension, and pulmonary venoocclusive disease. Example BMPR2 variants include T2S, T2A, and S3P.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable BMPR2 variants

Examples include T2S, T2A, S3P, S3S, S4L, S4S, L5P, L5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.