Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
659
Gene name Gene Name - the full gene name approved by the HGNC.
Bone morphogenetic protein receptor type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BMPR2
Synonyms (NCBI Gene) Gene synonyms aliases
BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1-q33.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852741 C>G,T Pathogenic Stop gained, coding sequence variant, missense variant
rs137852742 C>G,T Pathogenic Stop gained, coding sequence variant, missense variant
rs137852743 T>G Pathogenic Coding sequence variant, missense variant
rs137852744 G>A Pathogenic Coding sequence variant, missense variant
rs137852745 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003837 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR 18829576
MIRT004935 hsa-miR-17-5p Luciferase reporter assay, qRT-PCR, Western blot 19390056
MIRT004935 hsa-miR-17-5p Luciferase reporter assay, qRT-PCR, Western blot 19390056
MIRT000181 hsa-miR-20a-5p Luciferase reporter assay, qRT-PCR, Western blot 19390056
MIRT000181 hsa-miR-20a-5p Luciferase reporter assay, qRT-PCR, Western blot 19390056
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:0001558 Process Regulation of cell growth IEA
GO:0001568 Process Blood vessel development IBA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001649 Process Osteoblast differentiation IMP 22684006
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600799 1078 ENSG00000204217
Protein
UniProt ID Q13873
Protein name Bone morphogenetic protein receptor type-2 (BMP type-2 receptor) (BMPR-2) (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPR-II)
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 2HLQ , 3G2F , 6UNP , 7PPA , 7PPB , 7PPC , 7U5O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 33 127 Activin types I and II receptor domain Domain
PF00069 Pkinase 203 501 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart and liver.
Sequence
MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILC
SKGSTCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCST
DLCNVNF
TENFPPPDTTPLSPPHSFNRDETIIIALASVSVLAVLIVALCFGYRMLTGDRK
QGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDERPVAVKVFSFANRQNF
INEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVS
SCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTG
NRLVRPGEEDNAAISEVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRC
TDLFPGESVPEYQMAFQTEVGNHPTFEDMQVLVSREKQRPKFPEAWKENSLAVRSLKETI
EDCWDQDAEARLTAQCAEERM
AELMMIWERNKSVSPTVNPMSTAMQNERNLSHNRRVPKI
GPYPDYSSSSYIEDSIHHTDSIVKNISSEHSMSSTPLTIGEKNRNSINYERQQAQARIPS
PETSVTSLSTNTTTTNTTGLTPSTGMTTISEMPYPDETNLHTTNVAQSIGPTPVCLQLTE
EDLETNKLDPKEVDKNLKESSDENLMEHSLKQFSGPDPLSSTSSSLLYPLIKLAVEATGQ
QDFTQTANGQACLIPDVLPTQIYPLPKQQNLPKRPTSLPLNTKNSTKEPRLKFGSKHKSN
LKQVETGVAKMNTINAAEPHVVTVTMNGVAGRNHSVNSHAATTQYANGTVLSGQTTNIVT
HRAQEMLQNQFIGEDTRLNINSSPDEHEPLLRREQQAGHDEGVLDRLVDRRERPLEGGRT
NSNNNNSNPCSEQDVLAQGVPSTAADPGPSKPRRAQRPNSLDLSATNVLDGSSIQIGEST
QDGKSGSGEKIKKRVKTPYSLKRWRPSTWVISTESLDCEVNNNGSNRAVHSKSSTAVYLA
EGGTATTMVSKDIGMNCL
Sequence length 1038
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
MicroRNAs in cancer
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
Pulmonary arterial hypertension pulmonary arterial hypertension rs1574507076, rs1085307163, rs749485755, rs137852743, rs1085307226, rs1574488357, rs1574505321, rs137852748, rs1085307278, rs1574507124, rs1574464121, rs1085307306, rs1085307183, rs1574486038, rs1085307225
View all (97 more)
N/A
Pulmonary Arterial Hypertension Associated With Congenital Heart Disease pulmonary arterial hypertension associated with congenital heart disease rs1085307206, rs1553508187, rs1085307244, rs767070218 N/A
Pulmonary Hypertension pulmonary hypertension, primary, 1, Primary pulmonary hypertension, Pulmonary hypertension, primary, dexfenfluramine-associated rs1085307156, rs1085307362, rs1085307253, rs886039222, rs1085307338, rs1085307215, rs1085307306, rs1085307387, rs137852752, rs1085307191, rs1085307278, rs1085307197, rs1085307183, rs1085307286, rs777458559
View all (286 more)
N/A
Pulmonary venoocclusive disease Pulmonary venoocclusive disease 1 rs1060502584, rs1085307300, rs137852749, rs483352902, rs137852755, rs397514497, rs765887545 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
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 32471403
Acidemia isovaleric Associate 25755766
Adenoameloblastoma Associate 27780042
Adenocarcinoma of Lung Associate 35570745
Adenomatous Polyposis Coli Associate 36907526
Ameloblastoma Associate 27780042
Aortic Valve Calcification of Associate 33757126
Arteriovenous Malformations Associate 24583436, 24853021, 37164583
Arthritis Rheumatoid Associate 11014356, 26215036
Atrial Septal Defect Secundum Type Associate 29021450