BMPR1A
Chr 10ADbone morphogenetic protein receptor type 1A
Also known as: 10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
BMPR1A encodes a transmembrane serine/threonine kinase receptor that binds bone morphogenetic proteins and activates SMAD transcriptional regulators to control chondrocyte differentiation and adipogenesis. Mutations cause autosomal dominant juvenile polyposis syndrome and hereditary mixed polyposis syndrome, which present with intestinal polyps and increased colorectal cancer risk. The gene is highly constrained against loss-of-function variants (pLI 0.90, LOEUF 0.36), indicating that such mutations are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
BMPR1A · 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
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGAn Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
RECRUITINGVideo Capsule Examination in Patients With Lynch Syndrome
RECRUITINGExternal Resources
Links to major genomics databases and tools