BMPR2 Antibody – Mouse Monoclonal

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]

BMPR2: a serine/threonine-protein kinase receptor for bone morphogenetic protein (BMP). 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. 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 transcriptional regulators. Defects in BMPR2 are the cause of primary pulmonary hypertension (PPH1), a weakly penetrant dominant disorder, associated with lesions in pulmonary arterioles, elevated pulmonary arterial pressure, and right ventricular failure.

Protein type: Kinase, protein; Protein kinase, TKL; EC 2.7.11.30; Protein kinase, Ser/Thr (receptor); Membrane protein, integral; Cell cycle regulation; TKL group; STKR family; Type2 subfamily

Chromosomal Location of Human Ortholog: 2q33-q34

Cellular Component: extracellular space; cell surface; cell soma; integral to plasma membrane; dendrite; cytoplasm; apical plasma membrane; basal plasma membrane; plasma membrane; caveola

Molecular Function: transforming growth factor beta receptor activity; protein binding; growth factor binding; metal ion binding; activin receptor activity, type II; ATP binding; receptor signaling protein serine/threonine kinase activity

Biological Process: limb development; transcription from RNA polymerase II promoter; regulation of lung blood pressure; negative regulation of systemic arterial blood pressure; activin receptor signaling pathway; chondrocyte development; positive regulation of bone mineralization; cellular response to starvation; protein amino acid phosphorylation; negative regulation of vasoconstriction; regulation of cell proliferation; anterior/posterior pattern formation; BMP signaling pathway; positive regulation of osteoblast differentiation; mesoderm formation; proteoglycan biosynthetic process; transmembrane receptor protein serine/threonine kinase signaling pathway; lymphangiogenesis; positive regulation of axon extension involved in axon guidance; positive regulation of endothelial cell proliferation; blood vessel remodeling; brain development; negative regulation of cell growth; vascular endothelial growth factor receptor signaling pathway; alveolus development; positive regulation of BMP signaling pathway

Disease: Pulmonary Venoocclusive Disease 1, Autosomal Dominant; Pulmonary Hypertension, Primary, 1