PDGFRA (platelet derived growth factor receptor alpha)
Located on human chromosome 4q12, the PDGFRA gene encodes the platelet-derived growth factor receptor alpha, a critical member of the PDGFR subfamily within the broader receptor tyrosine kinase superfamily. Together with its paralog PDGFRB, PDGFRA orchestrates essential signaling cascades governing cell proliferation, migration, and survival, playing pivotal roles in embryonic development, angiogenesis, and tissue repair. Upon binding its ligand, PDGF, the receptor dimerizes and undergoes autophosphorylation, thereby activating downstream pathways such as PI3K-AKT and RAS-MAPK to regulate cellular growth and differentiation. PDGFRA is highly expressed in mesenchymal cells, glial cells, and interstitial cells of the gastrointestinal tract, where it is indispensable for nervous system development and the functional integrity of Cajal interstitial cells. Disruptions in this gene have significant pathological consequences: activating mutations, such as D842V, are strongly associated with gastrointestinal stromal tumors (GIST) and certain leukemias, while loss-of-function mutations can impair neural crest cell migration, leading to congenital conditions like Hirschsprung disease. Furthermore, aberrant overexpression of PDGFRA drives sustained pro-proliferative signaling that can precipitate tumorigenesis or fibrotic disorders, whereas reduced expression may compromise tissue repair and vascular homeostasis. In the context of GIST, PDGFRA often co-mutates with the KIT gene, and while first-generation tyrosine kinase inhibitors like imatinib are effective for targeted therapy, secondary resistance mutations necessitate the use of next-generation agents such as avapritinib. Beyond these primary associations, dysregulation of PDGFRA has been implicated in gliomas and certain inflammatory diseases, with its expression and activity further modulated by epigenetic modifications and microRNA-mediated regulatory mechanisms.
Gene Ontology
Subcellular localization of PDGFRA (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PDGFRA:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4144 Endocytosis [PATH:hsa04144] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4540 Gap junction [PATH:hsa04540] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5214 Glioma [PATH:hsa05214] |
| 5218 Melanoma [PATH:hsa05218] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| Name |
|---|
| Adaptive Immune System |
| Constitutive Signaling by Aberrant PI3K in Cancer |
| DAP12 interactions |
| DAP12 signaling |
| Disease |
| Diseases of signal transduction |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| Immune System |
| Innate Immune System |
| NGF signalling via TRKA from the plasma membrane |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signalling by NGF |
| Disease | Score | NofPmids | NofSnps | Source |
| Gastrointestinal Stromal Tumors | 0.615647294 | 292 | 10 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT |
| Hypereosinophilic syndrome | 0.145303683 | 38 | 1 | BeFree_CTD_human_LHGDN |
| Chronic eosinophilic leukemia | 0.134657861 | 54 | 2 | BeFree_ORPHANET |
| Spina Bifida | 0.126448592 | 5 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Medulloblastoma | 0.123538676 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Regular astigmatism - corneal | 0.120814326 | 3 | 1 | BeFree_GWASCAT |
| Cleft Palate | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Chondrosarcoma, Mesenchymal | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Lung diseases | 0.12 | 1 | 0 | CTD_human |
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