Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2

• Published in: BMB reports Vol. 50; no. 6; pp. 308 - 317
• Main Authors: Kim, Myung-Jin, Park, Seon Young, Chang, Hae Ryung, Jung, Eun Young, Munkhjargal, Anudari, Lim, Jong-Seok, Lee, Myeong-Sok, Kim, Yonghwan
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Society for Biochemistry and Molecular Biology 01.06.2017; 생화학분자생물학회
• Subjects: Animals; Bone Morphogenetic Protein Receptors, Type II - genetics; Bone Morphogenetic Protein Receptors, Type II - metabolism; Bone Morphogenetic Proteins - genetics; Bone Morphogenetic Proteins - metabolism; Cell Differentiation - genetics; Cell Differentiation - physiology; Humans; Invited Mini Review; Mutation - genetics; Signal Transduction - genetics; Signal Transduction - physiology; Transforming Growth Factor beta - genetics; Transforming Growth Factor beta - metabolism; 화학
• ISSN: 1976-6696; 1976-670X
• DOI: 10.5483/bmbrep.2017.50.6.059

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].