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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 Transporters
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
5
Cytoband
q32
Chromosome location (bp)
150113839 - 150155872
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 cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -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 PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. 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. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. 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
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
The protein encoded by this gene is 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 (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]...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 Transporters Accessory Factors Involved in Transport 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 COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001525[angiogenesis] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0004992[platelet activating factor receptor activity] GO:0005017[platelet-derived growth factor receptor activity] GO:0005019[platelet-derived growth factor beta-receptor activity] GO:0005102[signaling receptor binding] GO:0005161[platelet-derived growth factor receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006024[glycosaminoglycan biosynthetic process] GO:0006468[protein phosphorylation] GO:0006935[chemotaxis] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007568[aging] GO:0008284[positive regulation of cell population proliferation] GO:0008584[male gonad development] GO:0009636[response to toxic substance] GO:0009986[cell surface] GO:0010863[positive regulation of phospholipase C activity] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0014070[response to organic cyclic compound] GO:0014911[positive regulation of smooth muscle cell migration] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016324[apical plasma membrane] GO:0016477[cell migration] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019838[growth factor binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030335[positive regulation of cell migration] GO:0031401[positive regulation of protein modification process] GO:0031410[cytoplasmic vesicle] GO:0032355[response to estradiol] GO:0032516[positive regulation of phosphoprotein phosphatase activity] GO:0032526[response to retinoic acid] GO:0032956[regulation of actin cytoskeleton organization] GO:0032967[positive regulation of collagen biosynthetic process] GO:0033674[positive regulation of kinase activity] GO:0033993[response to lipid] GO:0034405[response to fluid shear stress] GO:0035025[positive regulation of Rho protein signal transduction] GO:0035441[cell migration involved in vasculogenesis] GO:0035556[intracellular signal transduction] GO:0035789[metanephric mesenchymal cell migration] GO:0035791[platelet-derived growth factor receptor-beta signaling pathway] GO:0035793[positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway] GO:0035909[aorta morphogenesis] GO:0036120[cellular response to platelet-derived growth factor stimulus] 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:0042542[response to hydrogen peroxide] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043202[lysosomal lumen] GO:0043231[intracellular membrane-bounded organelle] GO:0043235[receptor complex] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0043627[response to estrogen] GO:0045840[positive regulation of mitotic nuclear division] GO:0046488[phosphatidylinositol metabolic process] 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:0048661[positive regulation of smooth muscle cell proliferation] GO:0048839[inner ear development] GO:0050921[positive regulation of chemotaxis] GO:0055003[cardiac myofibril assembly] GO:0055093[response to hyperoxia] GO:0060326[cell chemotaxis] GO:0060437[lung growth] GO:0060981[cell migration involved in coronary angiogenesis] GO:0061298[retina vasculature development in camera-type eye] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071670[smooth muscle cell chemotaxis] GO:0072075[metanephric mesenchyme development] GO:0072262[metanephric glomerular mesangial cell proliferation involved in metanephros development] GO:0072275[metanephric glomerulus morphogenesis] GO:0072277[metanephric glomerular capillary formation] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0090280[positive regulation of calcium ion import] GO:2000379[positive regulation of reactive oxygen species metabolic process] GO:2000491[positive regulation of hepatic stellate cell activation] GO:2000573[positive regulation of DNA biosynthetic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
