PDGFRB Gene

The PDGFRB gene (localization on chromosome 5q32) is a protein-coding gene. PDGFRB is the acronym for "platelet-derived growth factor receptor, beta". The gene product is platelet-derived growth factor receptor beta (PDGFRB/CD140b), which belongs to the family of receptor tyrosine kinases (RTKs).

The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factors. These growth factors are mitogens for cells of mesenchymal origin. The PDGFRB gene is essential for normal development of the cardiovascular system and contributes to the reorganization of the actin cytoskeleton. On chromosome 5, the PDGFRB gene is flanked by the granulocyte-macrophage colony-stimulating factor and macrophage colony-stimulating factor receptor genes; all three genes may be involved in the 5q syndrome .

The PDGFRB protein kinase, which functions as a cell surface receptor for the homodimeric PDGFB and PDGFD and for the heterodimers formed by PDGFA and PDGFB plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis, and migration. Furthermore, this protein kinase is essential for blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Thus, it plays a role in the migration of vascular smooth muscle cells and the formation of neointima at sites of vascular injury. Required for normal development of the cardiovascular system. Required for the normal recruitment of pericytes (mesangial cells) in the renal glomerulus and for the normal formation of a branched capillary network in the renal glomeruli.

A translocation between chromosomes 5 and 12, which fuses this gene with the ETV6 gene, leads to a

chronic myeloproliferative disorder with eosinophilia (see hypereosinophilia syndrome below)

Other diseases associated with PDGFRB:

• premature aging syndrome, Penttinen type and
• Kosaki overgrowth syndrome.

Related metabolic pathways include the ErbB signaling pathway. An important paralog of this gene is KIT.

1. Pardanani A et al (2004) Imatinib therapy for hypereosinophilic syndrome and eosinophilia-associated myeloproliferative disorders. Leuk Res 28 Suppl 1: 47-52.
2. Tefferi A (2009) Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. J Cell Mol Med13:215-237.
3. Zhang XY et al. (2018) Pediatric myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta gene rearrangement: a case report and literature review. Zhonghua Er Ke Za Zhi 56:34-38.