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

Chromosomal Location of Human Ortholog: 2q33.1-q33.2

Cellular Component: caveola; extracellular space; integral to plasma membrane; intercellular junction; plasma membrane

Molecular Function: activin receptor activity, type II; protein binding

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

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