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PDGFRB Gene

protein-coding   GIFtS: 77
GCID: GC05M149494

Platelet-Derived Growth Factor Receptor, Beta Polypeptide


(Previous symbol: PDGFR)
  See PDGFRB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Platelet-Derived Growth Factor Receptor, Beta Polypeptide1 2     EC 2.7.10.13 8
PDGFR1 2 3 5     IBGC42 5
Beta-Type Platelet-Derived Growth Factor Receptor2 3     IMF12 5
Platelet-Derived Growth Factor Receptor 12 3     CD140B2
PDGF-R-beta2 3     JTK122
PDGFR-12 3     Platelet-Derived Growth Factor Receptor Beta2
PDGFR-beta2 3     Beta Platelet-Derived Growth Factor Receptor3
PDGFR12 3     CD140b Antigen3
CD140 Antigen-Like Family Member B2 3     EC 2.7.108

External Ids:    HGNC: 88041   Entrez Gene: 51592   Ensembl: ENSG000001137217   OMIM: 1734105   UniProtKB: P096193   

Export aliases for PDGFRB gene to outside databases

Previous GC identifers: GC05M149563 GC05M150021 GC05M149476 GC05M149521 GC05M149473 GC05M144641


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDGFRB Gene:
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. 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 translocation, ETV6, leukemia gene, results in chronic myeloproliferative
disorder with eosinophilia. (provided by RefSeq, Jul 2008)

GeneCards Summary for PDGFRB Gene:
PDGFRB (platelet-derived growth factor receptor, beta polypeptide) is a protein-coding gene. Diseases associated with PDGFRB include myofibromatosis, infantile, 1, and unclassified chronic myeloproliferative disease. GO annotations related to this gene include phosphatidylinositol 3-kinase binding and receptor binding. An important paralog of this gene is FLT4.

UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619
Function: 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

summary for PDGFRB Gene:
Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosine
kinase activity. They have roles in the regulation of many biological processes including embryonic
development, angiogenesis, cell proliferation and differentiation, and contribute to the pathophysiology of
some diseases, including cancer. There are two isoforms of the PDGFR receptor; PDGFRalpha and PDGFRbeta,
which can form homo- or heterodimers. The endogenous PDGFR ligands are PDGF-A, -B, -C and -D, which induce
receptor dimerization and transphosphorylation at specific tyrosine residues upon binding. This activates
the intracellular kinase activity, initiating intracellular signaling through the MAPK, PI 3-K and PKCgamma
pathways.

Gene Wiki entry for PDGFRB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDGFRB gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDGFRB promoter sequence
   Search Chromatin IP Primers for PDGFRB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDGFRB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q33.1

PDGFRB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDGFRB gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M149494:  view genomic region     (about GC identifiers)

Start:
149,493,400 bp from pter      End:
149,535,435 bp from pter
Size:
42,036 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619 (See protein sequence)
Recommended Name: Platelet-derived growth factor receptor beta precursor  
Size: 1106 amino acids; 123968 Da
Subunit: Interacts with homodimeric PDGFB and PDGFD, and with heterodimers formed by PDGFA and PDGFB. May also
interact with homodimeric PDGFC. Monomer in the absence of bound ligand. Interaction with homodimeric PDGFB,
heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD, leads to receptor dimerization, where both PDGFRA
homodimers and heterodimers with PDGFRB are observed. Interacts with SH2B2/APS. Interacts directly (tyrosine
phosphorylated) with SHB. Interacts (tyrosine phosphorylated) with PIK3R1. Interacts (tyrosine phosphorylated)
with CBL. Interacts (tyrosine phosphorylated) with SRC and SRC family kinases. Interacts (tyrosine
phosphorylated) with PIK3C2B, maybe indirectly. Interacts (tyrosine phosphorylated) with SHC1, GRB7, GRB10 and
NCK1. Interaction with GRB2 is mediated by SHC1. Interacts (via C-terminus) with SLC9A3R1
Selected PDB 3D structures from and Proteopedia for PDGFRB (see all 7):
1GQ5 (3D)        1H9O (3D)        1LWP (3D)        2L6W (3D)        2PLD (3D)        2PLE (3D)    
Secondary accessions: Q8N5L4

Explore the universe of human proteins at neXtProt for PDGFRB: NX_P09619

Explore proteomics data for PDGFRB at MOPED

Post-translational modifications: 

  • Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit
    of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to
    a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and
    Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with
    NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at
    Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of
    AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation
    at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for
    interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete
    for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated
    by PTPN2 at Tyr-579 and Tyr-10211
  • N-glycosylated1
  • Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation1
  • Ubiquitination2 at Lys707
  • Glycosylation2 at Asn45, Asn89, Asn103, Asn215, Asn230, Asn292, Asn307, Asn354, Asn371, Asn468,
                                 Asn479
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDGFRB (P09619) (see all 21)
     RDLAARN  LGGTPYP  ALMSELK  PAHASDE 


    See PDGFRB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002600.1  
    ENSEMBL proteins: 
     ENSP00000261799   ENSP00000430026   ENSP00000429218   ENSP00000430715  
    Reactome Protein details: P09619

    PDGFRB Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant PDGFRB Protein
    R&D Systems Recombinant & Natural Proteins for PDGFRB (PDGF R beta)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for PDGFRB
    OriGene Protein Over-expression Lysate for PDGFRB
    OriGene MassSpec for PDGFRB
    OriGene Custom Protein Services for PDGFRB
    GenScript Custom Purified and Recombinant Proteins Services for PDGFRB
    Novus Biologicals PDGFRB Proteins
    Novus Biologicals PDGFRB Lysates
    Sino Biological Recombinant Protein for PDGFRB
    Sino Biological Cell Lysate for PDGFRB
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PDGFRB 

    PDGFRB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PDGFRB
    R&D Systems Antibodies for PDGFRB (PDGF R beta)
    Cell Signaling Technology (CST) Antibodies for PDGFRB 
    OriGene Antibodies for PDGFRB
    OriGene Custom Antibody Services for PDGFRB
    Novus Biologicals PDGFRB Antibodies
    Abcam antibodies for PDGFRB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for PDGFRB
    LSBio Antibodies in human, mouse, rat for PDGFRB

    PDGFRB Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PDGFRB
    R&D Systems ELISAs for PDGFRB (PDGF R beta)         (see all)
    GenScript Custom Assay Services for PDGFRB
    Cell Signaling Technology (CST) Sandwich ELISA Kits for PDGFRB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PDGFRB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: platelet-derived growth factor receptor, beta polypeptide
    PDGF (platelet-derived growth factor) receptor family
    PDGF (platelet-derived growth factor) receptor family

    Selected InterPro protein domains (see all 15):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P09619

    ProtoNet protein and cluster: P09619

    4 Blocks protein domains:
    IPB001824 Receptor tyrosine kinase
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase
    IPB009134 Vascular endothelial growth factor receptor signature


    UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with PDGFRB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGFRB_HUMAN, P09619
    Function: 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
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. Binding of PDGFB and/or
    PDGFD leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib

         Genatlas biochemistry entry for PDGFRB:
    platelet-derived growth factor receptor,beta,subunit,homodimerizing and heterodimerizing with
    PDGFRA,immunoglobulin superfamily type III RTK subfamily,constitutively activated through amino-acid(s)
    substitution in a WW-like domain (phosphoserine- or phosphothreonine binding)

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity IDA1653029
    GO:0004714transmembrane receptor protein tyrosine kinase activity ----
    GO:0004871signal transducer activity ----
    GO:0004992platelet activating factor receptor activity TAS2536956
         
    Find genes that share ontologies with PDGFRB           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for PDGFRB:
     Decreased focal adhesion (FA)   Decreased viability with RAF26  Increased cell death HMECs cel  Increased cell death in breast 
     Increased mitotic index 

         Selected MGI mutant phenotypes (inferred from 18 alleles(MGI details for Pdgfrb) (see all 20):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with PDGFRB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PDGFRB: Pdgfrbtm10Sor Pdgfrbtm1Sor

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDGFRB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDGFRB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDGFRB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDGFRB

    miRNA
    Products:
        
    miRTarBase miRNAs that target PDGFRB:
    hsa-mir-224-5p (MIRT000770)

    Block miRNA regulation of human, mouse, rat PDGFRB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDGFRB (see all 36):
    hsa-miR-3194-5p hsa-miR-3655 hsa-miR-548k hsa-miR-29a hsa-miR-30d hsa-miR-486-3p hsa-miR-578 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidPDGFRB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PDGFRB
    Predesigned siRNA for gene silencing in human, mouse, rat PDGFRB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PDGFRB

    Clone
    Products:
         
    OriGene clones in human, mouse for PDGFRB (see all 7)
    OriGene ORF clones in mouse, rat for PDGFRB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDGFRB (NM_002609)
    Sino Biological Human cDNA Clone for PDGFRB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDGFRB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDGFRB
    Addgene plasmids for PDGFRB 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PDGFRB
    Browse ESI BIO Cell Lines and PureStem Progenitors for PDGFRB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFRB

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10395) for PDGFRB 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PGFRB_HUMAN, P09619: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Lysosome lumen.
    Note=After ligand binding, the autophosphorylated receptor is ubiquitinated and internalized, leading to its
    degradation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    plasma membrane5
    vacuole5
    nucleus4
    cytoskeleton2
    extracellular2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane IDA16477012
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PDGFRB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PDGFRB About   (see all 56)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Glioma
    Glioma0.51
    Prostate cancer0.39
    Melanoma0.43
    Signaling Pathways in Glioblastoma0.36
    2Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    3Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    4MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    5PEDF Induced Signaling
    Endothelin-1 Signaling Pathway0.46
    Cytokine-cytokine receptor interaction0.43


    Find genes that share SuperPaths with PDGFRB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PDGFRB
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PDGFRB (see all 58)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for PDGFRB
        Angiogenesis
    Tyrosine Kinases / Adaptors

    2 Tocris Bioscience Pathways for PDGFRB
        Akt Pathway
    Apoptosis Pathway

    Selected GeneGo (Thomson Reuters) Pathways for PDGFRB (see all 7)
        G-protein signaling H-RAS regulation pathway
    Development PDGF signaling via STATs and NF-kB
    Cytoskeleton remodeling Role of PDGFs in cell migration
    Transcription PPAR Pathway
    Development PDGF signaling via MAPK cascades

    Selected BioSystems Pathways for PDGFRB (see all 12)
        MAPK signaling pathway
    Focal Adhesion
    Signaling Pathways in Glioblastoma
    Regulation of Actin Cytoskeleton
    S1P1 pathway


    4 Reactome Pathways for PDGFRB
        Downstream signal transduction
    Constitutive PI3K/AKT Signaling in Cancer
    Signaling by PDGF
    PIP3 activates AKT signaling

    2 PharmGKB Pathways for PDGFRB
        Sorafenib Pharmacodynamics
    Vemurafenib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PDGFRB) (see all 15):
        MAPK signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    Calcium signaling pathway
    Cytokine-cytokine receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDGFRB (see all 7): 
              Notch Signaling Targets in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cancer Drug Targets in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDGFRB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDGFRB (P096191, 2, 3 ENSP000002617994) via UniProtKB, MINT, STRING, and/or I2D (see all 213)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061241, 2, 3, ENSP000003409444EBI-641237,EBI-297779 MINT-8027706 MINT-8312073 MINT-8034408 MINT-8312088 MINT-8027690 MINT-8027737 MINT-8027752 I2D: score=6 STRING: ENSP00000340944
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-641237,EBI-79464 MINT-8029783 MINT-8029948 MINT-8029933 MINT-8029858 MINT-8030936 MINT-8031128 MINT-8029888 MINT-8031173 MINT-8029798 MINT-8030966 MINT-8030997 MINT-8031204 MINT-8029963 MINT-8030981 MINT-8031012 MINT-8031113 MINT-8031053 MINT-8031143 I2D: score=6 STRING: ENSP00000274335
    PLCG1P191741, 2, 3, ENSP000002440074EBI-641237,EBI-79387 MINT-8034363 MINT-8034483 MINT-8027675 MINT-8034498 I2D: score=5 STRING: ENSP00000244007
    GRB7Q144511, 2, 3, ENSP000003107714EBI-641237,EBI-970191 MINT-8035557 MINT-8035572 MINT-8037827 MINT-8037842 I2D: score=3 STRING: ENSP00000310771
    SLC9A3R1O147451, 2, 3, ENSP000002626134EBI-641237,EBI-349787 MINT-2832623 MINT-2833042 I2D: score=4 STRING: ENSP00000262613
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 72):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development ----
    GO:0001894tissue homeostasis IEA--
    GO:0006024glycosaminoglycan biosynthetic process IEA--
    GO:0006468protein phosphorylation ----

    Find genes that share ontologies with PDGFRB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for PDGFRB (see all 14)     About this table
    CompoundAction CAS #
    Amuvatinib (MP-470, HPK 56)Multi-kinase inhibitor, inhibits PDGFR, c-Kit, and Flt3[850879-09-3]
    Crenolanib (CP-868596)Potent and selective PDGFR-beta inhibitor[670220-88-9]
    Flumatinib mesylatemulti-kinase inhibitor for c-Abl, PDGFRbeta and c-Kit[895519-91-2]
    Imatinib Mesylate (STI571)Multi-target kinase inhibitor of abl, c-kit, and PDGFR[220127-57-1]
    Masitinib (AB1010)tyrosine kinase, c-Kit, PDGFR, FGFR3, the FAK pathway inhibitor[790299-79-5]
    MK-2461potent inhibitor of Met, Ron, Flt1, Flt 3, PDGFRbeta, and Mer with IC50 of 2.5 nM, 7 nM, 10 nM, 22 nM, 22 nM and 24 nM, respectively[917879-39-1]
    Nintedanib (BIBF 1120)Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR[928326-83-4]
    Pazopanib (GW-786034)Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR[635702-64-6]
    Ponatinib (AP24534)pan-BCR-ABL inhibitor[943319-70-8]
    RegorafenibMulti-kinase inhibitor, inhibits VEGFR, PDGFR, FGFR, mutant kit, RET, and Raf-1[755037-03-7]

    Compounds for PDGFRB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
    Sunitinib malate Potent VEGFR, PDGFRbeta and KIT inhibitor [341031-54-7]
    DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta [137206-97-4]
    SU 16fPotent and selective PDGFRbeta inhibitor[251356-45-3]

    2 HMDB Compounds for PDGFRB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    7 DrugBank Compounds for PDGFRB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ImatinibCGP-57148B (see all 4)152459-95-5targetantagonist15803362 15753388 15887238 15893416 15794712
    SunitinibSU011248 (see all 2)557795-19-4targetantagonist16425993 12538485 15557593 12748309 14753710
    Dasatinib-- 302962-49-8targetantagonist16436588 16497876 20072833
    Sorafenib-- 284461-73-0targetantagonist17545544 16425993 17619763
    Becaplerminc-sis (see all 5)165101-51-9target--18686746
    PazopanibGW-786034 (see all 2)444731-52-6targetinhibitor17288876
    Regorafenib-- 755037-03-7targetinhibitor--

    Selected Novoseek inferred chemical compound relationships for PDGFRB gene (see all 76)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    imatinib 93.2 396 19041155 (5), 14760091 (4), 12644539 (4), 17545544 (3) (see all 99)
    tyrosine 87.5 491 7678051 (5), 10760511 (4), 7688466 (3), 9920285 (3) (see all 99)
    ag-1296 87.4 19 17299794 (2), 17158602 (1), 17699781 (1), 18571505 (1) (see all 15)
    sunitinib 81.7 35 19366796 (3), 17367763 (2), 17327610 (2), 19754358 (2) (see all 26)
    su6668 79.8 17 11978732 (3), 15701856 (2), 16144927 (1), 12888313 (1) (see all 9)
    sorafenib 73.2 42 17545544 (6), 17229632 (3), 17178882 (2), 16757355 (2) (see all 26)
    vegf 67.6 78 10691304 (4), 17611402 (3), 9705159 (3), 19082496 (3) (see all 36)
    phosphatidylinositol 64.4 51 7689724 (3), 10318871 (2), 1702511 (1), 19584297 (1) (see all 36)
    dasatinib 63 8 19602594 (2), 18524994 (1), 19363859 (1), 20406945 (1) (see all 7)
    phosphotyrosine 60.1 13 7689724 (2), 12149261 (2), 1375321 (1), 12822894 (1) (see all 7)

    1 PharmGKB related drug/compound annotation for PDGFRB gene    About this table
    Drug/compound PharmGKB Annotation
    imatinib



    Find genes that share compounds with PDGFRB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for PDGFRB gene: 
    NM_002609.3  

    Unigene Cluster for PDGFRB:

    Platelet-derived growth factor receptor, beta polypeptide
    Hs.509067  [show with all ESTs]
    Unigene Representative Sequence: BC032224
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261799(uc003lro.3 uc010jhd.3) ENST00000520851 ENST00000520579(uc011dcg.1)
    ENST00000519575 ENST00000521723 ENST00000520229 ENST00000522466 ENST00000517488
    ENST00000517957 ENST00000517660 ENST00000523456
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PDGFRB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDGFRB (see all 36):
    hsa-miR-3194-5p hsa-miR-3655 hsa-miR-548k hsa-miR-29a hsa-miR-30d hsa-miR-486-3p hsa-miR-578 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidPDGFRB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PDGFRB
    Predesigned siRNA for gene silencing in human, mouse, rat PDGFRB
    Clone
    Products:
         
    OriGene clones in human, mouse for PDGFRB (see all 7)
    OriGene ORF clones in mouse, rat for PDGFRB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDGFRB (NM_002609)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDGFRB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDGFRB
    Addgene plasmids for PDGFRB 
    Primer
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    OriGene qPCR primer pairs and template standards for PDGFRB
    OriGene qSTAR qPCR primer pairs in human, mouse for PDGFRB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDGFRB
      QuantiTect SYBR Green Assays in human, mouse, rat PDGFRB
      QuantiFast Probe-based Assays in human, mouse, rat PDGFRB
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10395) for PDGFRB 

    Additional mRNA sequence: 

    AB209657.1 AK293093.1 BC032224.1 EU826595.1 J03278.1 JN003579.1 M21616.1 M30493.1 

    17 DOTS entries:

    DT.120845737  DT.448552  DT.40132860  DT.120845610  DT.100775478  DT.95276859  DT.97767661  DT.100028310 
    DT.102828348  DT.95225962  DT.100775476  DT.120845517  DT.120845711  DT.95279873  DT.91661119  DT.92015635 
    DT.92034934 

    Selected AceView cDNA sequences (see all 463):

    T51882 BM702001 BU930979 R92689 CR612121 CD369943 CD369309 AA284843 
    BQ710007 BC032224 CD518518 AA833737 M14193 R70545 BF222994 CN481180 
    AI749531 AA284607 AA284954 AW963369 BX479433 BP360429 AI590783 BU615910 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRB (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^
    SP1:                    -     -     -     -                                                                             -                                   -   
    SP2:                    -     -     -     -                             -                                               -                                   -   
    SP3:                                                                                                                                                            
    SP4:                                      -                                                                                                                     
    SP5:                    -     -     -     -     -                                                                                                               

    ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
    SP1:        -     -                                                         
    SP2:        -     -                                                         
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PDGFRB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PDGFRB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGTATGGT
    PDGFRB Expression
    About this image


    PDGFRB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 32) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 8 entries
             Epicardial Progenitors Cells Epicardium
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Pericytes Blood Brain Barrier
             Cerebral Cortex
             GABA neuron-like cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Pericytes Microvessels
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 6 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Pericytes Splanchnic Mesoderm
    PDGFRB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDGFRB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509067
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDGFRB (see all 7): 
              Notch Signaling Targets in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cancer Drug Targets in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PDGFRB
    OriGene qSTAR qPCR primer pairs in human, mouse for PDGFRB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDGFRB
    QuantiTect SYBR Green Assays in human, mouse, rat PDGFRB
    QuantiFast Probe-based Assays in human, mouse, rat PDGFRB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDGFRB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PDGFRB gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdgfrb1 , 5 platelet derived growth factor receptor, beta polypeptide1, 5 83.58(n)1
    85.97(a)1
      18 (34.41 cM)5
    185961  NM_001146268.11  NP_001139740.11 
     610451505 
    chicken
    (Gallus gallus)
    Aves PDGFRB1 platelet-derived growth factor receptor, beta polypeptide 70.55(n)
    68.47(a)
      770488  XM_001233829.3  XP_001233830.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDGFRB6
    platelet-derived growth factor receptor, beta poly...
    61(a)
    1 ↔ 1
    2(139463052-139556558)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pdgfrb1 platelet-derived growth factor receptor, beta polypeptide 60.46(n)
    59.35(a)
      100487523  XM_002940087.2  XP_002940133.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pdgfrb1 platelet-derived growth factor receptor beta 58.4(n)
    52.82(a)
      559529  NM_001190933.1  NP_001177862.1 


    ENSEMBL Gene Tree for PDGFRB (if available)
    TreeFam Gene Tree for PDGFRB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PDGFRB gene
    FLT42  FGFR42  CSF1R2  KIT2  FGFR32  PDGFRA2  RET2  KDR2  
    FGFR12  FGFR22  FLT32  FLT12  
    4 SIMAP similar genes for PDGFRB using alignment to 5 protein entries:     PGFRB_HUMAN (see all proteins):
    EPHA2    KIT    CSF1R    PDGFRA

    Find genes that share paralogs with PDGFRB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDGFRB (see all 1190)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0420294
    A gastric adenocarcinoma sample4--see VAR_0420292 Y H mis40--------
    VAR_0693214
    Basal ganglia calcification, idiopathic, 4 (IBGC4)4--see VAR_0693212 R W mis40--------
    VAR_0693204
    Basal ganglia calcification, idiopathic, 4 (IBGC4)4--see VAR_0693202 L P mis40--------
    VAR_0420314
    A breast infiltrating ductal carcinoma sample4--see VAR_0420312 T I mis40--------
    VAR_0699254
    Myofibromatosis, infantile 1 (IMF1)4--see VAR_0699252 R C mis40--------
    rs3692690381,2
    C--144655376(+) CATCT-/A/A   
       AAAAA
    AAAAA
    2 -- int1 cds10--------
    rs68874541,2
    C,F,H--149494984(+) GATTCG/AGTCTC 1 -- ut3118Minor allele frequency- A:0.06NS EA NA CSA WA 2161
    rs2463871,2
    C--149495050(+) CCCATC/TTTACA 1 -- ut3114Minor allele frequency- T:0.00MN NA WA CSA EA 560
    rs22295621,2
    C,F,H--149495253(-) GCCTGA/GCCGGG 1 -- ut31 ese324Minor allele frequency- G:0.32MN NS EA NA WA CSA 2346
    rs22295611,2
    C,F,A--149495287(-) CCCCCA/C/GCTGCC 2 -- ut31 trp37MN WA NA 290

    HapMap Linkage Disequilibrium report for PDGFRB (149493400 - 149535435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PDGFRB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883029CNV Loss21882294
    nsv883027CNV Loss21882294
    nsv525243CNV Loss19592680
    nsv883028CNV Loss21882294
    nsv830518CNV Loss17160897
    nsv5062CNV Loss18451855
    nsv329566CNV Loss16902084
    dgv6359n71CNV Loss21882294
    nsv883030CNV Loss21882294

    Human Gene Mutation Database (HGMD): PDGFRB
    Selected Site Specific Mutation Identification with PCR Assays for PDGFRB (see all 19):
    Cosmic IdAA Change
    40449p.V348V
    117293p.Y343S
    48648p.T545I
    119695p.L12V
    75895p.R849G
    2 Copy Number PCR Panels containing PDGFRB:
    Glioma
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing PDGFRB
    DNA2.0 Custom Variant and Variant Library Synthesis for PDGFRB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 173410   
    OMIM disorders: 131440  615007  228550  
    UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619
  • Note=A chromosomal aberration involving PDGFRB is found in a form of chronic myelomonocytic leukemia
    (CMML). Translocation t(5;12)(q33;p13) with EVT6/TEL. It is characterized by abnormal clonal myeloid
    proliferation and by progression to acute myelogenous leukemia (AML)
  • Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder
    characterized by malignant eosinophils proliferation. Note=The gene represented in this entry may be involved in
    disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic
    myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an
    PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a
    PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion
    protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5'-end of CEP85L (isoform
    4) to the 3'-end of PDGFRB (PubMed:21938754)
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood
    cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors
    at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other
    tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils,
    eosinophils and monocytes. Note=The gene represented in this entry may be involved in disease pathogenesis. A
    chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with
    TRIP11 (PubMed:9373237)
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic
    syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell
    compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes,
    rashes, and hemorrhages. Note=The gene represented in this entry may be involved in disease pathogenesis. A
    chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2)
    with SPECC1 (PubMed:15087372)
  • Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]: A form of basal ganglia calcification,
    an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain
    regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms,
    including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum
    levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological
    hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected
    brain areas. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myofibromatosis, infantile 1 (IMF1) [MIM:228550]: A rare mesenchymal disorder characterized by the
    development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs.
    Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular
    lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at
    birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with
    high morbidity and mortality. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for PDGFRB (see all 35):    
    About MalaCards
    myofibromatosis, infantile, 1    unclassified chronic myeloproliferative disease    chronic myelomonocytic leukemia    basal ganglia calcification, idiopathic, 4
    chronic myeloproliferative disease    myeloid neoplasm associated with pdgfrb rearrangement    eosinophilia    myeloproliferative disorder with eosinophilia
    primary familial brain calcification 4    brain cancer    primary familial brain calcification    hypereosinophilic syndrome, idiopathic, resistant to imatinib
    hypereosinophilic syndrome    myeloproliferative disorder    diabetic angiopathy    uterine sarcoma
    infantile myofibromatosis    basal ganglia cancification, idiopathic, 1    dermatofibrosarcoma protuberans    dermatofibrosarcoma

    6 diseases from the University of Copenhagen DISEASES database for PDGFRB:
    Eosinophilia     Leukemia     Systemic mastocytosis     Pigmented villonodular synovitis
    Myelofibrosis     Chordoma

    Find genes that share disorders with PDGFRB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PDGFRB gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastrointestinal stromal tumor 78.3 9 15224284 (1), 16294026 (1), 11914627 (1), 19366796 (1) (see all 9)
    myeloproliferative neoplasm 78 17 20107158 (3), 20085582 (2), 18971950 (1), 19006078 (1) (see all 8)
    hypereosinophilic syndrome 74.7 1 18706197 (1)
    leukemia myelomonocytic chronic 73.3 13 11588050 (2), 9616134 (1), 12908555 (1), 19100521 (1) (see all 11)
    leukemia eosinophilic 69.7 2 19761433 (1), 20053713 (1)
    dermatofibrosarcoma protuberans 68.6 4 17431412 (1), 15532894 (1), 15794712 (1)
    myeloid leukemia chronic 67.4 15 12480706 (1), 16143881 (1), 19509233 (1), 11914627 (1) (see all 15)
    myeloproliferative disorders 67.4 29 17296564 (3), 18262053 (2), 15477214 (2), 10910073 (1) (see all 19)
    tumors 64.6 302 20505768 (9), 16988946 (5), 15705896 (4), 12644539 (4) (see all 99)
    mastocytosis systemic 57.3 8 15995325 (1)

    Genetic Association Database (GAD): PDGFRB
    Human Genome Epidemiology (HuGE) Navigator: PDGFRB (14 documents)
    Tumor Gene Database (TGDB): PDGFRB

    Export disorders for PDGFRB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PDGFRB gene, integrated from 10 sources (see all 1052):
    (articles sorted by number of sources associating them with PDGFRB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Binding of Cbl to a phospholipase Cgamma1-docking site on platelet- derived growth factor receptor beta provides a dual mechanism of negative regulation. (PubMed id 17620338)1, 2, 9 Reddi A.L.... Band H. (J. Biol. Chem. 2007)
    2. Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. (PubMed id 9373237)1, 2, 9 Abe A.... Saito H. (Blood 1997)
    3. Development of hygromas or severe edema during treatment with the tyrosine kinase inhibitor STI571 is not associated with platelet-derived growth factor receptor (PDGFR) gene polymorphisms. (PubMed id 15380338)1, 4, 9 BrA1ck P....Ottmann O.G. (Leuk. Res. 2004)
    4. Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation. (PubMed id 19035305)1, 4, 9 Trojani A....Morra E. (Anticancer Res. 2008)
    5. Site-selective dephosphorylation of the platelet-derived growth factor beta-receptor by the receptor-like protein-tyrosine phosphatase DEP-1. (PubMed id 10821867)1, 2, 9 Kovalenko M.... Ostman A. (J. Biol. Chem. 2000)
    6. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (PubMed id 23731537)1, 2 Cheung Y.H....Jabado N. (Am. J. Hum. Genet. 2013)
    7. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. (PubMed id 23255827)1, 2 Nicolas G.... Campion D. (Neurology 2013)
    8. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. (PubMed id 23731542)1, 2 Martignetti J.A....Hakonarson H. (Am. J. Hum. Genet. 2013)
    9. Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm. (PubMed id 21938754)1, 2 Chmielecki J.... Pao W. (Genes Chromosomes Cancer 2012)
    10. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5159 HGNC: 8804 AceView: PDGFRBandCSF1R Ensembl:ENSG00000113721 euGenes: HUgn5159
    ECgene: PDGFRB Kegg: 5159 H-InvDB: PDGFRB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDGFRB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDGFRB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDGFRB gene:
    Search GeneIP for patents involving PDGFRB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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