Zurück zu Ihrem Suchergebnis

Beschreibung

Bone morphogenetic protein receptor type-2 (UniProt: Q13873, also known as EX: 2.7.11.30, BMP type-2 receptor, BMPR-2, Bone morphogenetic protein receptor type II, BMP type II receptor, BMPR-II) is encoded by the BMPR2 (also known as PPH1) gene (Gene ID: 659) in human. BMPR-2 is a single-pass type I membrane protein that is highly expressed in heart and liver. It binds Bone morphogenetic proteins that are involved in paracrine signaling. Two isoforms of BMPR-2 have been described that are produced by alternative splicing. BMPR-2 serves as a serine/threonine receptor kinase and upon ligand binding it 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. It is shown to bind to BMP7, BMP2 and, less efficiently, BMP4. BMPR-2 is synthesized with a signal peptide (aa 1-16), which is subsequently cleaved off. The mature form has an extracellular domain (aa 27-150), a transmembrane domain (aa 151-171), and a cytoplasmic domain (aa 172-1038). Its kinase activity is localized within amino acids 203-504 in the cytoplasmic domain. Mutations in BMPR2 gene are reported to cause primary pulmonary hypertension that is characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death.