Gene Gene information from NCBI Gene database.
Entrez ID 659
Gene name Bone morphogenetic protein receptor type 2
Gene symbol BMPR2
Synonyms (NCBI Gene)
BMPR-IIBMPR3BMR2BRK-3POVD1PPH1T-ALK
Chromosome 2
Chromosome location 2q33.1-q33.2
Summary 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.
378
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.
1440
miRTarBase ID miRNA Experiments Reference
MIRT003837 hsa-miR-21-5p Luciferase reporter assayqRT-PCR 18829576
MIRT004935 hsa-miR-17-5p Luciferase reporter assayqRT-PCRWestern blot 19390056
MIRT004935 hsa-miR-17-5p Luciferase reporter assayqRT-PCRWestern blot 19390056
MIRT000181 hsa-miR-20a-5p Luciferase reporter assayqRT-PCRWestern blot 19390056
MIRT000181 hsa-miR-20a-5p Luciferase reporter assayqRT-PCRWestern blot 19390056
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
145
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600799 1078 ENSG00000204217
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
BMPR2-related disorder Pathogenic; Likely pathogenic rs137852746, rs1085307154, rs1085307169, rs1085307194, rs777458559 RCV004549350
RCV004551606
RCV004551607
RCV005256619
RCV003315244
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Drug- or toxin-induced pulmonary arterial hypertension Likely pathogenic rs2106002050 RCV001823971
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs1085307185 RCV005899709
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure Pathogenic rs2106008473 RCV001663386
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ameloblastoma Ameloblastoma Pubtator 27780042 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 15520767
★☆☆☆☆
Found in Text Mining only
Aortic Valve Calcification of Aortic valve disease Pubtator 33757126 Associate
★☆☆☆☆
Found in Text Mining only
Arterial intimal fibrosis Arterial intimal fibrosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arteriovenous Malformations Arteriovenous malformations Pubtator 24583436, 24853021, 37164583 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 11014356, 26215036 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 18292470
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect BEFREE 17102831
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect LHGDN 17102831
★☆☆☆☆
Found in Text Mining only
Atrioventricular Septal Defect Atrioventricular septal defect Pubtator 15358693 Associate
★☆☆☆☆
Found in Text Mining only