Gene Gene information from NCBI Gene database.
Entrez ID 657
Gene name Bone morphogenetic protein receptor type 1A
Gene symbol BMPR1A
Synonyms (NCBI Gene)
10q23delACVRLK3ALK-3ALK3BMPR-1ACD292SKR5
Chromosome 10
Chromosome location 10q23.2
Summary The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, AC
SNPs SNP information provided by dbSNP.
144
SNP ID Visualize variation Clinical significance Consequence
rs35619497 C>T Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign Missense variant, coding sequence variant
rs55932635 G>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs112883778 T>A,C Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs113849804 G>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs140592056 G>A Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
528
miRTarBase ID miRNA Experiments Reference
MIRT022438 hsa-miR-124-3p Microarray 18668037
MIRT037861 hsa-miR-455-3p CLASH 23622248
MIRT538936 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT541914 hsa-miR-511-3p HITS-CLIP 21572407
MIRT538939 hsa-miR-223-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
163
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IMP 24882581
GO:0001649 Process Osteoblast differentiation IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001707 Process Mesoderm formation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601299 1076 ENSG00000107779
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36894
Protein name Bone morphogenetic protein receptor type-1A (BMP type-1A receptor) (BMPR-1A) (EC 2.7.11.30) (Activin receptor-like kinase 3) (ALK-3) (Serine/threonine-protein kinase receptor R5) (SKR5) (CD antigen CD292)
Protein function On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans
PDB 1ES7 , 1REW , 2GOO , 2H62 , 2H64 , 2K3G , 2QJ9 , 2QJA , 2QJB , 3NH7 , 3QB4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 59 134 Activin types I and II receptor domain Domain
PF08515 TGF_beta_GS 205 232 Transforming growth factor beta type I GS-motif Family
PF07714 PK_Tyr_Ser-Thr 234 521 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle.
Sequence
Sequence length 532
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis
  Signaling by BMP
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3992
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BMPR1A-Related Polyposis Syndrome Pathogenic rs587782682 RCV005250019
Cervical cancer Likely pathogenic rs1564715427 RCV005901633
Colorectal cancer Likely pathogenic rs2539351347 RCV005937407
Generalized juvenile polyposis/juvenile polyposis coli Likely pathogenic; Pathogenic rs587782494, rs587782682, rs587783038, rs764466442, rs786202611, rs786204187, rs878854673, rs1131691181, rs1554886816, rs1554888970, rs1564673999, rs1564714834, rs1589763343, rs1589763393, rs771910503
View all (2 more)
RCV005600736
RCV000475579
RCV000144578
RCV000461272
RCV000463942
RCV000168250
RCV000227192
RCV000779843
RCV000635432
RCV000635455
RCV000692917
RCV000755041
RCV000798986
RCV000797951
RCV000988405
RCV001257403
RCV001258058
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aplasia/Hypoplasia involving the metacarpal bones Uncertain significance rs1057518941 RCV000414934
Aplasia/Hypoplasia of the phalanges of the hand Uncertain significance rs1057518941 RCV000414934
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) Conflicting classifications of pathogenicity rs750840234 RCV000761117
BMPR1A-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs35619497, rs186999445, rs145101532, rs567733221, rs587782578, rs587782760, rs1447308562, rs730881430, rs754752449, rs747266339, rs587782682, rs377412651, rs786202823, rs863224719, rs863224721
View all (10 more)
RCV003891640
RCV003905179
RCV003894991
RCV004754307
RCV003905238
RCV004730880
RCV004754844
RCV003416026
RCV003892118
RCV003895082
RCV003895107
RCV003965200
RCV004754326
RCV004754352
RCV004754353
RCV003927859
RCV003982966
RCV003417845
RCV003409637
RCV004730947
RCV003424076
RCV003392422
RCV004754282
RCV003915757
RCV003405525
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 23531103
Adenocarcinoma Mucinous Associate 18422752
Adenoma Associate 18008360, 36049049
Adenomatous Polyposis Coli Associate 23805267, 27696107, 33032550, 36049049, 37889976
Androgen Insensitivity Syndrome Associate 20971460
Arnold Chiari Malformation Associate 23437350
Atrioventricular Septal Defect Associate 25996639, 31493347
Autoimmune enteropathy Associate 33822054
Breast Neoplasms Associate 23180569, 34866136
Carcinoma Large Cell Associate 23531103