title: Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.
abstract: Bone morphogenetic protein type 2 receptor (BMPR2) is one of the transforming growth factor-β (TGF-β) superfamily receptors, performing diverse roles during embryonic development, vasculogenesis, and osteogenesis. Human BMPR2 consists of 1,038 amino acids, and contains functionally conserved extracellular, transmembrane, kinase, and C-terminal cytoplasmic domains. Bone morphogenetic proteins (BMPs) engage the tetrameric complex, composed of BMPR2 and its corresponding type 1 receptors, which initiates SMAD proteins-mediated signal transduction leading to the expression of target genes implicated in the development or differentiation of the embryo, organs and bones. In particular, genetic alterations of BMPR2 gene are associated with several clinical disorders, including representative pulmonary arterial hypertension, cancers, and metabolic diseases, thus demonstrating the physiological importance of BMPR2. In this mini review, we summarize recent findings regarding the molecular basis of BMPR2 functions in BMP signaling, and the versatile roles of BMPR2. In addition, various aspects of experimentally validated pathogenic mutations of BMPR2 and the linked human diseases will also be discussed, which are important in clinical settings for diagnostics and treatment. [BMB Reports 2017; 50(6): 308-317].
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Myung-Jin
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Seon Young
authors.initials: SY
authors.lastname: Park
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Hae Ryung
authors.initials: HR
authors.lastname: Chang
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Jung
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Anudari
authors.initials: A
authors.lastname: Munkhjargal
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Jong-Seok
authors.initials: JS
authors.lastname: Lim
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Myeong-Sok
authors.initials: MS
authors.lastname: Lee
authors.affiliation: Department of Biological Sciences, Sookmyung Women's University, Seoul 04310, Korea.
authors.forename: Yonghwan
authors.initials: Y
authors.lastname: Kim
mesh_terms: D000818:Animals; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics* / Q000378:metabolism*; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000378:metabolism; D002454:Cell Differentiation / Q000235:genetics / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism
chemical_list: D019485:Bone Morphogenetic Proteins; D016212:Transforming Growth Factor beta; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II