The PDGFRA gene encodes platelet-derived growth factor receptor alpha, one of a family of receptor tyrosine kinases involved in cell-signal transduction and control multiple cellular processes such as cell growth, proliferation, and survival.

DGIdb, The Drug Gene Interaction Database, is a research resource that can be used to search candidate genes or drugs against the known and potentially druggable genome.

GO annotations related to this gene include platelet-derived growth factor receptor binding and protein homodimerization activity. FIP1L1-PDGFRA is an abnormal fusion gene sequence that causes the bone marrow to produce too many eosinophils, a type of white blood cell. It is a rare cause of hypereosinophilia (HE) and hypereosinophilic syndrome (HES). This test detects the FIP1L1-PDGFRA gene sequence to help diagnose these conditions. Both null and conditional (‘floxed’) alleles for the mouse Pdgfra gene (34, 36) were obtained, and were used to observe the effects that a range of PDGFRA dosage, from none (Pdgfra null/null) to half-normal amounts (Pdgfra null/+), would have on inflow tract development. PDGFRA is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family.

Pdgfra gene

The PDGFRA gene is associated with autosomal dominant GIST -plus syndrome (MedGen UID: 357402). PDGFRA/Pdgfra gene is regulated by at least seven first exons in human and mouse. our findings support a pathogenetic relationship between telocyte hyperplasia and both inflammatory fibroid polyp and PDGFRA-mutant gastrointestinal stromal tumour (GIST). PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) encodes the platelet-derived growth factor receptor alpha protein. PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. PDGFRA alternative transcripts resulting in PDGFRA gene fusions are associated with aematological malignancies and eosinophilia.

Oct 25, 2018 Eosinophilia is a severe disease with increased eosinophil count. The transcript of FIP1L1-PDGFRA fusion gene is a genetic biomarker of

The gene is formed by the fusion of fragments of two other genes called PDGFRA and FIP1L1. This fusion gene then produces a fusion protein which is made up of parts of both the PDGFRA and FIP1L1 proteins. The PDGFRA gene normally codes for a cell membrane receptor protein. Gene: PDGFRA OTTHUMG00000128699.

Gene name. PDGFRA (HGNC Symbol) Synonyms. CD140a, PDGFR2: Description. Platelet-derived growth factor receptor, alpha polypeptide (HGNC Symbol) Entrez 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.

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Raf-1 Proto-Oncogene, Serine/Threonine Kinase. NM_002880. 7. 246. 273.
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The most frequent PDGFRA mutation is the exon 18 D842V, which is correlated to specific clinico-pathological features, such as primary imatinib resistance and higher indolence. Here, we present a gene expression Plasmid pCEP4-PDGFRA-reporter from Dr. Erik Procko's lab contains the inserts PDGFRalpha and Array of serum response elements (SRE) to drive destabilized GFP expression from a minimal promoter. and is published in PLoS Pathog. 2020 Jun 19;16(6):e1008647.

XL PDGFRA BA consists of a green-labeled probe hybridizing proximal to the PDGFRA gene region at 4q12 and an orange-labeled probe hybridizing distal to the PDGFRA gene region at 4q12.
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t(2;4)(p22;q12) STRN/PDGFRA STRN PDGFRA t0204p22q12ID2136 - MPD del(4)(q12q12) FIP1L1/PDGFRA FIP1L1 PDGFRA del4q12q12ID1213 - AML

The PDGFRA gene provides instructions for making a protein called platelet-derived growth factor receptor alpha (PDGFRA), which is part of a family of proteins called receptor tyrosine kinases (RTKs). 2021-03-22 · PDGFRA genes mutations detected before the start of therapy that are related to GIST pathogenesis and some secondary mutations causing drug resistance and progression of disease. miR-34a could inhibit Akt [PKB (protein kinase B)] phosphorylation, which was restored by the overexpression of both PDGFR and MET. The gene view histogram is a graphical view of mutations across PDGFRA. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.