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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q12
Chromosome location (bp)
54229280 - 54298245
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Chemotaxis, Host-virus interaction
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. [provided by RefSeq, Mar 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001553[luteinization] GO:0001701[in utero embryonic development] GO:0001775[cell activation] GO:0002244[hematopoietic progenitor cell differentiation] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005018[platelet-derived growth factor alpha-receptor activity] GO:0005021[vascular endothelial growth factor receptor activity] GO:0005161[platelet-derived growth factor receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005902[microvillus] GO:0005929[cilium] GO:0006468[protein phosphorylation] GO:0006935[chemotaxis] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008210[estrogen metabolic process] GO:0008284[positive regulation of cell population proliferation] GO:0008585[female gonad development] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010544[negative regulation of platelet activation] GO:0010863[positive regulation of phospholipase C activity] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016477[cell migration] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019838[growth factor binding] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030054[cell junction] GO:0030198[extracellular matrix organization] GO:0030324[lung development] GO:0030325[adrenal gland development] GO:0030335[positive regulation of cell migration] GO:0030539[male genitalia development] GO:0032991[protein-containing complex] GO:0033327[Leydig cell differentiation] GO:0033674[positive regulation of kinase activity] GO:0034614[cellular response to reactive oxygen species] GO:0035790[platelet-derived growth factor receptor-alpha signaling pathway] GO:0038084[vascular endothelial growth factor signaling pathway] GO:0038085[vascular endothelial growth factor binding] GO:0038091[positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway] GO:0042060[wound healing] GO:0042327[positive regulation of phosphorylation] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0046777[protein autophosphorylation] GO:0048008[platelet-derived growth factor receptor signaling pathway] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048146[positive regulation of fibroblast proliferation] GO:0048407[platelet-derived growth factor binding] GO:0048557[embryonic digestive tract morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048704[embryonic skeletal system morphogenesis] GO:0048705[skeletal system morphogenesis] GO:0050872[white fat cell differentiation] GO:0050920[regulation of chemotaxis] GO:0055003[cardiac myofibril assembly] GO:0060021[roof of mouth development] GO:0060325[face morphogenesis] GO:0060326[cell chemotaxis] GO:0061298[retina vasculature development in camera-type eye] GO:0062063[BBSome binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070527[platelet aggregation] GO:0071230[cellular response to amino acid stimulus] GO:0072277[metanephric glomerular capillary formation] GO:2000249[regulation of actin cytoskeleton reorganization] GO:2000739[regulation of mesenchymal stem cell differentiation]
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001553[luteinization] GO:0001775[cell activation] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005018[platelet-derived growth factor alpha-receptor activity] GO:0005021[vascular endothelial growth factor receptor activity] GO:0005161[platelet-derived growth factor receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005929[cilium] GO:0006468[protein phosphorylation] GO:0006935[chemotaxis] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008284[positive regulation of cell population proliferation] GO:0010544[negative regulation of platelet activation] GO:0010863[positive regulation of phospholipase C activity] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019838[growth factor binding] GO:0030054[cell junction] GO:0030335[positive regulation of cell migration] GO:0032991[protein-containing complex] GO:0033674[positive regulation of kinase activity] GO:0034614[cellular response to reactive oxygen species] GO:0035790[platelet-derived growth factor receptor-alpha signaling pathway] GO:0038084[vascular endothelial growth factor signaling pathway] GO:0038085[vascular endothelial growth factor binding] GO:0038091[positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway] GO:0042060[wound healing] GO:0042327[positive regulation of phosphorylation] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0046777[protein autophosphorylation] GO:0048008[platelet-derived growth factor receptor signaling pathway] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048146[positive regulation of fibroblast proliferation] GO:0048407[platelet-derived growth factor binding] GO:0048557[embryonic digestive tract morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048704[embryonic skeletal system morphogenesis] GO:0050920[regulation of chemotaxis] GO:0055003[cardiac myofibril assembly] GO:0060326[cell chemotaxis] GO:0061298[retina vasculature development in camera-type eye] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070527[platelet aggregation] GO:0072277[metanephric glomerular capillary formation] GO:2000249[regulation of actin cytoskeleton reorganization] GO:2000739[regulation of mesenchymal stem cell differentiation]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
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