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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BMPR1A
bone morphogenetic protein receptor type 1A
Chromosome 10 Β· 10q23.2
NCBI Gene: 657Ensembl: ENSG00000107779.17HGNC: HGNC:1076UniProt: P36894
203PubMed Papers
22Diseases
2Drugs
305Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinaseReceptor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP bindingBMP bindingprotein homodimerization activitySMAD bindingjuvenile polyposis syndromehereditary mixed polyposis syndromegeneralized juvenile polyposis/juvenile polyposis colihereditary neoplastic syndrome
✦AI Summary

BMPR1A is a transmembrane serine/threonine kinase receptor that functions as a key component of the bone morphogenetic protein (BMP) signaling pathway. Upon ligand binding (BMP2, BMP4, GDF5, GDF6), BMPR1A forms a heterotetrameric complex with type II receptors, which phosphorylate and activate BMPR1A; the activated receptor then phosphorylates SMAD transcriptional regulators to initiate downstream signaling 1. BMPR1A positively regulates chondrocyte differentiation through GDF5 interaction and mediates adipogenesis induction by GDF6 [UniProt]. The receptor also plays critical roles in cardiac regeneration, where macrophage-derived BMP2 activates BMPR1A signaling to promote cardiomyocyte proliferation 2, and in trophoblast invasion during placentation, where BMPR1A-SMAD signaling promotes invasive capacity 1. Clinically, BMPR1A mutations are significant in disease pathogenesis. Germline BMPR1A mutations cause juvenile polyposis syndrome, an autosomal dominant condition characterized by multiple gastrointestinal polyps and 39% lifetime colorectal cancer risk 34. Mutations occur in approximately 50-60% of juvenile polyposis patients 3. Additionally, BMPR1A variants associate with primary ovarian insufficiency 5. BMPR1A also participates in pathological osteogenic differentiation of renal fibroblasts contributing to kidney stone formation 6.

Sources cited
1
BMPR1A is activated by BMP2 and mediates SMAD2/3-SMAD4 signaling in trophoblasts
PMID: 37331163
2
Macrophage-derived BMP2 activates BMPR1A signaling in cardiomyocytes to drive proliferation during cardiac regeneration
PMID: 41205597
3
BMPR1A mutations cause juvenile polyposis syndrome with 39% lifetime colorectal cancer risk; mutations found in 50-60% of JPS patients
PMID: 22171123
4
BMPR1A protein is a transmembrane serine/threonine kinase receptor involved in BMP signaling determining colonic mucosal development
PMID: 25097590
5
BMPR1A variants are associated with primary ovarian insufficiency and nonsyndromic POI pathogenesis
PMID: 34794894
6
OMD/BMP2/BMPR1A/RUNX2 signaling drives osteogenic-like differentiation of renal fibroblasts in Randall's plaque formation
PMID: 39225583
7
BMPR1A mutations are associated with juvenile polyposis syndrome, a genetic disorder conferring increased colorectal cancer risk
PMID: 36768460
Disease Associationsβ“˜22
juvenile polyposis syndromeOpen Targets
0.83Strong
hereditary mixed polyposis syndromeOpen Targets
0.74Strong
generalized juvenile polyposis/juvenile polyposis coliOpen Targets
0.64Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
tibia fractureOpen Targets
0.50Moderate
bone diseaseOpen Targets
0.46Moderate
familial colorectal cancer type XOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
colorectal cancerOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
spinal fusionOpen Targets
0.37Weak
Juvenile polyposis syndromeUniProt
Polyposis syndrome, mixed hereditary 2UniProt
Pathogenic Variants305
NM_004329.3(BMPR1A):c.1313G>A (p.Trp438Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 438
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 43
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 22
NM_004329.3(BMPR1A):c.230+1G>ALikely pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025
NM_004329.3(BMPR1A):c.934del (p.His312fs)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 312
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 273
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter)Pathogenic
Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 195
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|Neoplasm|not provided|BMPR1A-Related Polyposis Syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 228
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys)Likely pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|Neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 411
NM_004329.3(BMPR1A):c.772del (p.Val258fs)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 258
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided|Polyposis syndrome, hereditary mixed, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 117
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|not provided|Polyposis syndrome, hereditary mixed, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 361
NM_004329.3(BMPR1A):c.67+1G>APathogenic
Juvenile polyposis syndrome|Polyposis syndrome, hereditary mixed, 2|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 58
NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)Pathogenic
Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 425
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 5
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome|Generalized juvenile polyposis/juvenile polyposis coli
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 494
View on ClinVar β†—
Drug Targets2
DIBOTERMIN ALFAApproved
Activin receptor type-2A agonist
EPTOTERMIN ALFAApproved
Activin receptor type-1 agonist
tibia fracture
Related Genes
MSH2Protein interaction100%BMP3Protein interaction100%BMP5Protein interaction100%BMP8BProtein interaction100%GDF2Protein interaction100%TFRCProtein interaction99%
Tissue Expression6 tissues
Heart
100%
Ovary
86%
Brain
64%
Lung
47%
Liver
36%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
BMPR1AMSH2BMP3BMP5BMP8BGDF2TFRC
PROTEIN STRUCTURE
Preparing viewer…
PDB2H62 Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.20]
RankingsWhere BMPR1A stands among ~20K protein-coding genes
  • #2,065of 20,598
    Most Researched203 Β· top quartile
  • #559of 1,025
    FDA-Approved Drug Targets2
  • #199of 5,498
    Most Pathogenic Variants305 Β· top 5%
  • #419of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedBMPR1A
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
PMID: 36768460
Int J Mol Sci Β· 2023
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
Injury-induced Clusterin
PMID: 41205597
Cell Stem Cell Β· 2025
0.80
4
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
PMID: 34645488
Genome Med Β· 2021
0.70
5
Lysosomal protein transmembrane 5 promotes lung-specific metastasis by regulating BMPR1A lysosomal degradation.
PMID: 35842443
Nat Commun Β· 2022
0.68