Gene: PDGFRB

Alternate names for this Gene: CD140B|IBGC4|IMF1|JTK12|KOGS|PDGFR|PDGFR-1|PDGFR1|PENTT

Gene Summary: The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: platelet derived growth factor receptor beta

Type of Gene: protein-coding

rs397509381 in PDGFRB gene and BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 PMID 23255827 2013 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

PMID 26599395 2015 Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

PMID 24065723 2013 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

rs2304058 in PDGFRB gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1060499540 in PDGFRB gene and Infantile myofibromatosis PMID 28334876 2017 PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

rs367543286 in PDGFRB gene and MYOFIBROMATOSIS, INFANTILE, 1 PMID 28183292 2017 Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.

PMID 26455322 2016 PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

PMID 23731537 2013 A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

PMID 23731542 2013 Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

rs3832325 in PDGFRB gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3832325 in PDGFRB gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1554108211 in PDGFRB gene and Penttinen-Aula syndrome PMID 26279204 2015 A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.