PDGFRB : platelet derived growth factor receptor beta

Description

The PDGFRB (platelet derived growth factor receptor beta) is a protein-coding gene located on chromosome 5.

The PDGFRB gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRβ), which is part of a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The PDGFRβ protein is found in the cell membrane of certain cell types, where a protein called platelet-derived growth factor attaches (binds) to it. This binding turns on (activates) the PDGFRβ protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. This process, called phosphorylation, leads to the activation of a series of proteins in multiple signaling pathways.The signaling pathways stimulated by the PDGFRβ protein control many important processes in the cell such as growth and division (proliferation), movement, and survival. PDGFRβ protein signaling is important for the development of many types of cells throughout the body.

PDGFRB is a tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD, and for heterodimers formed by PDGFA and PDGFB. It plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. PDGFRB is crucial for blood vessel development, promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. It also plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. PDGFRB is required for normal development of the cardiovascular system and is essential for the normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, as well as for normal formation of a branched network of capillaries in kidney glomeruli. PDGFRB promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD - leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. PDGFRB phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. PDGFRB promotes phosphorylation and activation of SRC family kinases and promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

PDGFRB is also known as CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing