Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
657
Gene name Gene Name - the full gene name approved by the HGNC.
Bone morphogenetic protein receptor type 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BMPR1A
Synonyms (NCBI Gene) Gene synonyms aliases
10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601299 1076 ENSG00000107779
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary mixed polyposis syndrome polyposis syndrome, hereditary mixed, 2 rs764466442, rs1060503409, rs1589288524, rs1564725603, rs199476087 N/A
neoplasm Neoplasm rs587782682 N/A
Polyposis Coli generalized juvenile polyposis/juvenile polyposis coli rs1564673999, rs1564714834, rs878854673, rs764466442, rs1554886816, rs771910503, rs587782682, rs1589763343, rs786204187, rs1589763393, rs1554888970, rs587783038, rs1131691181 N/A
Polyposis Syndrome juvenile polyposis syndrome rs786201038, rs1564722014, rs1554886821, rs1554891570, rs878854672, rs1589290813, rs1589763427, rs587781928, rs759363072, rs786201501, rs1554890743, rs1554888317, rs1589292746, rs1843627734, rs587782388
View all (69 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Congenital heart defects congenital heart defects, multiple types N/A N/A GenCC
Gout Gout N/A N/A GWAS
Pulmonary arterial hypertension pulmonary arterial hypertension N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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