MGP Database

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MGP000326

UniProt Annotations

Entry Information
Gene Namebone morphogenetic protein receptor, type II (serine/threonine kinase)
Protein EntryBMPR2_HUMAN
UniProt IDQ13873
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13873-1; Sequence=Displayed; Name=2; IsoId=Q13873-2; Sequence=VSP_054441, VSP_054442;
Catalytic ActivityATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
DiseasePulmonary hypertension, primary, 1 (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269|PubMed:10903931, ECO:0000269|PubMed:10973254, ECO:0000269|PubMed:11015450, ECO:0000269|PubMed:11115378, ECO:0000269|PubMed:12358323, ECO:0000269|PubMed:15965979}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269|PubMed:12446270, ECO:0000269|PubMed:16429395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionOn 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 transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs.
InteractionP08607:C4bpa (xeno); NbExp=3; IntAct=EBI-527196, EBI-527325; P43026:GDF5; NbExp=4; IntAct=EBI-527196, EBI-8571476; P68404:Prkcb (xeno); NbExp=4; IntAct=EBI-527196, EBI-397048; Q13976:PRKG1; NbExp=2; IntAct=EBI-527196, EBI-3952014;
SimilarityBelongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. {ECO:0000305}.
SimilarityContains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00159}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
Tissue SpecificityHighly expressed in heart and liver.
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