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  3. PDGFRA

PDGFRA (Platelet derived growth factor receptor alpha)

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The Function of PDGFRA

Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

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Protein names

Recommended name:

Platelet-derived growth factor receptor alpha

Short name:

PDGFR-2

Alternative name(s):

PDGF-R-alpha
PDGFR-alpha
Alpha platelet-derived growth factor receptor
Alpha-type platelet-derived growth factor receptor
CD140 antigen-like family member A
CD140a antigen
Platelet-derived growth factor alpha receptor
Platelet-derived growth factor receptor 2
CD antigen CD140a

PDGFRA SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1364989 (PDGFRA) ??
  2. RS17084051 (PDGFRA) ??
  3. RS1800813 (PDGFRA) ??
  4. RS2114039 (PDGFRA) ??
  5. RS7677751 (PDGFRA) ??

Top Gene-Substance Interactions

PDGFRA Interacts with These Diseases

Disease Score

Substances That Increase PDGFRA

Substances Interaction Organism Category

Substances That Decrease PDGFRA

Substances Interaction Organism Category

Advanced Summary

     gastrointestinal stromal tumor Mutations in the PDGFRA gene are associated with gastrointestinal stromal tumors (GISTs). GISTs are a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The majority of GISTs associated with a mutation in the PDGFRA gene occur in the stomach. In most cases, the genetic changes are acquired during a person's lifetime and are called somatic mutations. Somatic mutations, which lead to sporadic GISTs, are present only in the tumor cells and are not inherited. Less commonly, PDGFRA gene mutations that increase the risk of developing GISTs are inherited from a parent, which can lead to familial GISTs. PDGFRA gene mutations associated with GISTs create a protein that no longer requires binding of the platelet-derived growth factor protein to be activated. As a result, the PDGFRA protein and the signaling pathways are constitutively activated, which increases cell proliferation and survival, leading to tumor formation. PDGFRA-associated chronic eosinophilic leukemia Genetic abnormalities that involve the PDGFRA gene cause a type of blood cell cancer called PDGFRA-associated chronic eosinophilic leukemia. This condition is characterized by an increased number of eosinophils, a type of white blood cell involved in allergic reactions. These genetic abnormalities are somatic mutations, which are mutations acquired during a person's lifetime that are present only in certain cells. The most common of these genetic abnormalities is a deletion of genetic material from chromosome 4 that brings together parts of two genes, FIP1L1 and PDGFRA, creating the FIP1L1-PDGFRA fusion gene. Occasionally, genes other than FIP1L1 are fused with the PDGFRA gene. Mutations that change single DNA building blocks in the PDGFRA gene (point mutations) can also cause this condition, although these mutations are seen very rarely. The protein produced from the FIP1L1-PDGFRA fusion gene (as well as other PDGFRA fusion genes) has the function of the PDGFRA protein. However, unlike the normal PDGFRA protein, the fusion protein does not require binding of the platelet-derived growth factor protein to be activated. Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. As a result, the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in early blood cells, the growth of eosinophils (and occasionally other blood cells) is poorly controlled, leading to PDGFRA-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change. other disorders PDGFRA gene mutations that lead to a constitutively active PDGFRA protein are also associated with inflammatory fibroid polyps, which are small, noncancerous (benign) tumors that form in the gastrointestinal tract. These tumors are made up of fibrous tissue and usually contain cells known to cause inflammation (inflammatory cells). As in GISTs, the constitutively active PDGFRA protein leads to the overgrowth of cells and formation of tumors.

     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). Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The PDGFRA protein is found in the cell membrane of certain cell types where a specific protein, called platelet-derived growth factor, attaches (binds) to it. This binding turns on (activates) the PDGFRA protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions (a process called phosphorylation). This process leads to the activation of a series of proteins in multiple signaling pathways. The signaling pathways stimulated by the PDGFRA protein control many important cellular processes such as cell growth and division (proliferation) and cell survival. PDGFRA protein signaling is important for the development of many types of cells throughout the body.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • C/EBPbeta
  • HNF-4alpha1
  • HNF-4alpha2
  • c-Rel
  • NF-1
  • c-Myb

Tissue specificity:

Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue.

Gene Pathways:

  • Disease
  • Immune System
  • MAPK signaling pathway
  • Melanoma
  • Pathways in cancer
  • Regulation of actin cytoskeleton
  • Signal Transduction
  • Calcium signaling pathway
  • Cytokine-cytokine receptor interaction
  • Prostate cancer
  • Glioma

Enzyme Regulation:

Present in an inactive conformation in the absence of bound ligand. Binding of PDGFA and/or PDGFB leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib, nilotinib and sorafenib.

Molecular Function:

  • Atp Binding
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Activity
  • Platelet-Derived Growth Factor Alpha-Receptor Activity
  • Platelet-Derived Growth Factor Binding
  • Platelet-Derived Growth Factor Receptor Binding
  • Protein Homodimerization Activity
  • Ras Guanyl-Nucleotide Exchange Factor Activity
  • Transmembrane Receptor Protein Tyrosine Kinase Activity
  • Vascular Endothelial Growth Factor-Activated Receptor Activity
  • Vascular Endothelial Growth Factor Binding

Biological Processes:

  • Cardiac Myofibril Assembly
  • Cell Activation
  • Cell Chemotaxis
  • Cellular Response To Reactive Oxygen Species
  • Embryonic Cranial Skeleton Morphogenesis
  • Embryonic Digestive Tract Morphogenesis
  • Embryonic Skeletal System Morphogenesis
  • Luteinization
  • Mapk Cascade
  • Metanephric Glomerular Capillary Formation
  • Negative Regulation Of Platelet Activation
  • Peptidyl-Tyrosine Phosphorylation
  • Phosphatidylinositol-Mediated Signaling
  • Platelet Aggregation
  • Platelet-Derived Growth Factor Receptor-Alpha Signaling Pathway
  • Platelet-Derived Growth Factor Receptor Signaling Pathway
  • Positive Regulation Of Cell Migration
  • Positive Regulation Of Cell Proliferation
  • Positive Regulation Of Cell Proliferation By Vegf-Activated Platelet Derived Growth Factor Receptor Signaling Pathway
  • Positive Regulation Of Cytosolic Calcium Ion Concentration
  • Positive Regulation Of Dna Replication
  • Positive Regulation Of Erk1 And Erk2 Cascade
  • Positive Regulation Of Fibroblast Proliferation
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Activity
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Positive Regulation Of Phospholipase C Activity
  • Protein Autophosphorylation
  • Regulation Of Actin Cytoskeleton Reorganization
  • Regulation Of Chemotaxis
  • Regulation Of Mesenchymal Stem Cell Differentiation
  • Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Retina Vasculature Development In Camera-Type Eye
  • Viral Process
  • Wound Healing

Drug Bank:

  • Becaplermin
  • Imatinib
  • Ponatinib
  • Sunitinib
  • Pazopanib
  • Regorafenib
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| platelet-derived growth factor receptor, alpha polypeptide| A306_08935| alpha platelet-derived growth factor receptor| Alpha platelet-derived growth factor receptor precursor (PDGF-R-alpha)| Alpha-type platelet-derived growth factor receptor| alpha-type platelet-derived growth factor receptor-like| APDGFR| AS28_04944| CB1_002539001| CD140a| CD140a antigen| CD140 antigen-like family member A| D623_10026763| EGK_15882| etID309717.20| GAS9| GW7_00400| H920_12151| M959_12727| MDA_GLEAN10015835| N301_01916| N302_04104| N305_05153| N307_07100| N310_12616| N312_01356| N321_04669| N326_01169| N327_05292| N329_03021| N330_11612| N333_00759| N334_02567| N335_04948| N340_12475| PAL_GLEAN10016104| PANDA_008035| PDGFACE| PDGF alpha chain| pdgfr| pdgfr2| Pdgfr-2| pdgfr-a| PDGFRA/BCR fusion| pdgfralpha| pdgfr-alpha| PDGF-R-alpha| platelet-derived growth factor alpha receptor| platelet-derived growth factor receptor 2| platelet-derived growth factor receptor alpha| platelet derived growth factor receptor, alpha polypeptide| Pre-mRNA 3'-end-processing factor FIP1| rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein| RHEPDGFRA| TREES_T100015841| tyrosine kinase PDGFR| UY3_17787| Y1Q_030599| Y956_08127| pdgfra

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