Gene: PDGFRA

Alternate names for this Gene: CD140A|PDGFR-2|PDGFR2

Gene Summary: This gene encodes 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 or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers.

Gene is located in Chromosome: 4

Location in Chromosome : 4q12

Description of this Gene: platelet derived growth factor receptor alpha

Type of Gene: protein-coding

rs7677751 in PDGFRA gene and Astigmatism PMID 22144915 2011 Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

rs67388297 in PDGFRA gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1800813 in PDGFRA gene and Corneal Topography PMID 24963161 2014 CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

PMID 23401653 2013 A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.

rs1057519700 in PDGFRA gene and Gastrointestinal Stromal Tumors PMID 14645423 2003 Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.

PMID 15928335 2005 PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.

PMID 22745105 2012 Crenolanib is a potent inhibitor of imatinib-resistant PDGFRA kinases associated with GIST, including the PDGFRA D842V mutation found in approximately 5% of GISTs.

PMID 26130666 2016 Imatinib is active against non-D842V PDGFRA-mutant GISTs, whereas GISTs harboring the D842V mutation are primarily resistant to imatinib.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 16954519 2006 Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.

PMID 12949711 2003 We found 2 types of constitutively activated mutations of PDGFR alpha, Val-561 to Asp or Asp-842 to Val, in 5 of 8 GISTs without KIT mutations but not in 10 GISTs with KIT mutations.

PMID 18794084 2008 In this study, we compared the efficacy of second-line tyrosine kinase inhibitors such as dasatinib, sorafenib, and nilotinib against two GIST-related PDGFRA mutants, PDGFRA(D842V) and PDGFRA(DeltaDIM842-844).

PMID 15928335 2005 Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V.

PMID 16638875 2006 Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate.

PMID 15685537 2005 Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants.

PMID 22718859 2012 Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era.

PMID 15146165 2004 A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential.

PMID 17087936 2006 In this study, we compare the effects of 3 tyrosine kinase inhibitors, PKC412 and nilotinib, and imatinib, on 2 GIST-related PDGFRA mutants, V561D and D842V, which possess differential sensitivity to imatinib.

PMID 17087936 2006 Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity.

PMID 22745105 2012 Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors.

rs7678144 in PDGFRA gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs7677751 in PDGFRA gene and Regular astigmatism - corneal PMID 22144915 2011 Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P(meta) = 7.87×10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts.

rs1057519811 in PDGFRA gene and melanoma PMID 24132921 2013 Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib.