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PDGFRB Gene

protein-coding   GIFtS: 75

GC05M149473
platelet-derived growth factor receptor, beta polypeptide
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PDGFR)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CD140B 2
CD140b 1
EC 2.7.10.1 3
JTK12 1, 2
PDGF-R-beta 2, 3
PDGFR 2, 5
PDGFR1 1, 2
Descriptions
CD140 antigen-like family member B 2, 3
CD140b antigen 3
platelet-derived growth factor receptor beta 2
platelet-derived growth factor receptor, beta polypeptide 2
soluble PDGFRb variant 1 2
External Ids
HGNC: 88041
Entrez Gene: 51592
UniProtKB: P096193
Ensembl: ENSG000001137217
Search outside databases for aliases for PDGFRB gene

Previous GC identifers: GC05M149563 GC05M150021 GC05M149476 GC05M149521

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PDGFRB:
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]

UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619
Function: Receptor that binds specifically to PDGFB and PDGFD and has a tyrosine-protein kinase
activity. Phosphorylates Tyr residues at the C-terminus of PTPN11 creating a binding site for the
SH2 domain of GRB2

Gene Wiki entry for PDGFRB

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PDGFRB gene  

Entrez Gene cytogenetic band: 5q31-q32   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q31-q32

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

GeneLoc gene densities for chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M149473:     (about GC identifiers)

Start:
149,473,595 bp from pter
End:
149,515,615 bp from pter
Size:
42,021 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000005.8  NT_029289.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619 (See protein sequence)
Recommended Name: Beta-type platelet-derived growth factor receptor precursor  
Size: 1106 amino acids; 123968 Da
Subunit: Homodimer, and heterodimer with PDGFRA. Interacts with APS. The autophosphorylated form
interacts directly with SHB and with PIK3C2B, maybe indirectly
Subcellular location: Membrane; Single-pass type I membrane protein
PDB structures from and Proteopedia :
1GQ5 (3D)    1H9O (3D)    1LWP (3D)    
Secondary accessions: Q8N5L4

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002600.1  

    ENSEMBL proteins: 
    ENSP00000261799 


    Human Recombinant Proteins 
    Invitrogen human recombinant proteins for PDGFRB
    Millipore Purified and/or Recombinant PDGFRB Protein
    Sigma-Aldrich Proteins for PDGFRB  
    R&D Systems Recombinant & Natural Proteins for PDGFRB (PDGF R beta)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PDGF Receptor alpha + beta, PDGF Receptor beta)
    Human Recombinant Proteins from Abnova (PDGFRB)
                  OriGene Purified Recombinant Human Protein: PDGFRB 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for PDGFRB: 
    Invitrogen Antibodies for PDGFRB
    Millipore Mono- and Polyclonal Antibodies for the study of PDGFRB
    Sigma-Aldrich Antibody Arrays and Antibodies for PDGFRB
    R&D Systems Antibodies for PDGFRB (PDGF R beta)
    Cell Signaling Technology (CST) Antibodies for PDGFRB  (PDGFR beta)
    Antibodies from Abcam (PDGF Receptor alpha + beta, PDGF Receptor beta), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PDGFRB)
    Novus Biologicals Antibodies for PDGFRB

    Assays for PDGFRB: 
    Invitrogen Assays for PDGFRB
    Millipore Kits and Assays for the Analysis of PDGFRB
    R&D Systems ELISAs for PDGFRB (PDGF R beta)         (see all)
    Cell Signaling Technology (CST) Sandwich ELISA Kits for PDGFRB (PDGFR beta)
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/12 InterPro domains/families (see all 12 ):
     IPR003598 Ig_sub2
     IPR007110 Ig-like
     IPR017441 Protein_kinase_ATP_BS
     IPR016243 TyrPK_CSF1-R
     IPR003599 Ig_sub


       GeneDecks  PDGFRB for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P09619

    ProtoNet protein and cluster: P09619

    4 Blocks protein families:
    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PDGFRB)
    Millipore RNAi Products for the Analysis of PDGFRB Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (PDGFRB)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002609

                  Applied Biosystems Silencer® siRNAs for PDGFRB

                  Sigma-Aldrich siRNA and siRNA Panels for PDGFRB  
                         Sigma-Aldrich shRNA Panels and shRNA for PDGFRB  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PDGFRB
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002609
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002609
                                     untagged cDNA clone in CMV expression vector: NM_002609 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002609

    UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619
    Function: Receptor that binds specifically to PDGFB and PDGFD and has a tyrosine-protein kinase
    activity. Phosphorylates Tyr residues at the C-terminus of PTPN11 creating a binding site for the
    SH2 domain of GRB2
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme Number (IUBMB): EC 2.7.10.1 

    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)

    15/20 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Pdgfrb) (see all 20 ):

    cellularcraniofacialdigestive/alimentaryembryogenesis
    endocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatalmusclenervous systemnormal

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004872 receptor activity IEA--
    GO:0004992 platelet activating factor receptor activity TAS2536956
    GO:0005019 platelet-derived growth factor beta-receptor activity IDA2536956
    GO:0005021 vascular endothelial growth factor receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/9 Invitrogen iPath™ Online BioAtlas - Pathways for PDGFRB (see all 9 ) (Maps provided by GeneGo):
     PDGF signaling via STATs and NF-kB
     PPAR Pathway
     Role of PDGFs in cell migration
     Putative erythropoietin signaling pathway (part 2)
     H-RAS regulation pathway

       GeneDecks  PDGFRB for the pathways selected above  
    About GeneDecksing

    5/6 Millipore Pathways for PDGFRB (see all 6 )
     Transcription PPAR Pathway
     Development PDGF signaling via MAPK cascades
     Development PDGF signaling via STATs and NF-kB
     Signal transduction IP3 signaling
     Cytoskeleton remodeling Role of PDGFs in cell migration

       GeneDecks  PDGFRB for the pathways selected above  
    About GeneDecksing

    5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for  PDGFRB  (Your Favorite Gene powered by Ingenuity) (see all 7
     Glioma Signaling
     PPAR Signaling
     NF-&kappa
     Hepatic Fibrosis / Hepatic Stellate Cell Activation
     Human Embryonic Stem Cell Pluripotency

       GeneDecks  PDGFRB for the pathways selected above  
    About GeneDecksing

    2 Cell Signaling Technology (CST) Pathways for PDGFRB: 
     Translational Control: Regulation of eIF4E and p70 S6 Kinase
     Protein Acetylation

       GeneDecks  PDGFRB for the pathways selected above  
    About GeneDecksing

    5/11 Kegg Pathways  (Kegg details for PDGFRB) (see all 11 ):
     hsa04010 MAPK signaling pathway
     hsa04020 Calcium signaling pathway
     hsa04060 Cytokine-cytokine receptor interaction
     hsa04510 Focal adhesion
     hsa04540 Gap junction

       GeneDecks  PDGFRB for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  PDGFRB 


    5/167 Interacting proteins for PDGFRB (ENSP000002617993 P096191, 2) via UniProtKB, MINT, and/or STRING (see all 167 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDGFBP011271STRING (score=.999) EBI-641237, EBI-1554925
    PIK3C2BO007501STRING (score=.812) EBI-641237, EBI-641107
    PTPRJQ129131STRING (score=.971) EBI-641237, EBI-2264500
    SLC9A3R1O147452STRING (score=.999) MINT-2832623 MINT-2833042
    PTENP604842STRING (score=.992) MINT-2832984
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165 signal transduction TAS2536956 10821867
    GO:0008284 positive regulation of cell proliferation IDA17470632
    GO:0030335 positive regulation of cell migration IDA17470632
    GO:0046777 protein amino acid autophosphorylation IDA2536956
    GO:0048008 platelet-derived growth factor receptor signaling pathway IDA2536956
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for PDGFRB
    Sigma-Aldrich Small Molecules for PDGFRB:
    Inhibitor

    Compounds for PDGFRB available from Tocris Bioscience
    CompoundAction CAS number
    SU 6668PDGFR, VEGFR and FGFR inhibitor[252916-29-3]
    AG 213EGFR/PDGFR-kinase inhibitor[122520-86-9]
    DMPQ dihydrochloridePotent, selective inhibitor of beta-type PDGFR[137206-97-4]
    AG 18EGFR/PDGFR-kinase inhibitor[118409-57-7]
    SU 16fPotent and selective PDGF-Rbeta inhibitor[251356-45-3]
    About this table


    10/36 Novoseek chemical compound relationships for PDGFRB gene (see all 36 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ag-1296 87.73 16 17299794 (2), 17158602 (1), 17699781 (1), 18571505 (1) (see all 14)
    tyrosine 87.18 452 7678051 (5), 10760511 (4), 7688466 (3), 9920285 (3) (see all 99)
    su6668 79.33 16 11978732 (3), 15701856 (2), 16144927 (1), 19047154 (1) (see all 8)
    phosphatidylinositol 64.65 48 7689724 (3), 10318871 (2), 1702511 (1), 9506992 (1) (see all 33)
    phosphotyrosine 60.07 13 7689724 (2), 12149261 (2), 1375321 (1), 12822894 (1) (see all 7)
    pki-166 54.52 2 15205332 (1)
    wortmannin 42.23 11 17299794 (2), 10318871 (1), 9543391 (1), 8552594 (1) (see all 7)
    phosphoinositide 34.44 3 11062076 (1), 18204097 (1)
    zd6474 33.88 1 11881999 (1)
    threonine 25.59 9 19228077 (1), 19188183 (1), 15134532 (1), 17098432 (1) (see all 6)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PDGFRB)
    Millipore RNAi Products for the Analysis of PDGFRB Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (PDGFRB)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002609

                  Sigma-Aldrich siRNA and siRNA Panels for PDGFRB  
                         Sigma-Aldrich shRNA Panels and shRNA for PDGFRB  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002609  

    REFSEQ mRNAs for PDGFRB gene: 

    NM_002609.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002609  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002609
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002609
                                     untagged cDNA clone in CMV expression vector: NM_002609 

    Additional cDNA sequence: 

    AB209657.1 AK293093.1 BC032224.1 CR593034.1 CR612121.1 EU826595.1 J03278.1 M21616.1 
    M30493.1 

    17 DOTS entries:

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

    24/463 AceView cDNA sequences (see all 463 ):

    BM704575 CD366480 CN481180 AW963369 CR612121 BQ709453 BX479433 CA307730 
    BF375451 CR613133 AA402994 BM689263 T51882 AA833737 BM702001 BX102016 
    AI749531 BF377002 AA368051 BP360429 BQ710007 CN481362 NM_005211 AI590783 

    highest scoring ESTs for PDGFRB:

    J03278 AA852228 AL589565 AL596837 AU077268 AU100262 BC032224 BI554032 BM546285 BX504022 

    Unigene Cluster for PDGFRB:

    Platelet-derived growth factor receptor, beta polypeptide
    Hs.509067  [show with all ESTs]
    Unigene Representative Sequence: BC032224


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRB (see all 9 )

    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:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for PDGFRB

    1 Ensembl transcript including schematic representation:
    ENST00000261799  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PDGFRB expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PDGFRB

    1 / 2 / 3

    5 probe-sets matching PDGFRB gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1771_s_at2, 3 U95-A 1 1.00 1.00 0.98 0.95 J03278 1.00 1.00 1.00 1
    36993_at2, 3 U95-A 1 1.00 1.00 0.98 0.95 M33210 0.20 1.00 0.72 1

    74696_r_at2, 3 U95-D 1 1.00 1.00 0.96 1.10 AW003358 0.60 1.00 0.82 1

    202273_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002609 0.60 1.00 0.82 1

    202273_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  PDGFRB for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGGGTATGGT

    SOURCE GeneReport for Unigene cluster: Hs.509067

    Expression variation in blood from EXPOLDB for PDGFRB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PDGFRB gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PDGFRB1   -- platelet-derived growth factor receptor, beta polypeptide 88.4(n)
    90.74(a)
    442985  NM_001003382.1  NP_001003382.1 
    chimpanzee
    (Pan troglodytes)
    PDGFRB1   -- platelet-derived growth factor receptor, beta polypeptide 98.09(n)
    98.15(a)
    462188  XM_518034.2  XP_518034.2 
    rat
    (Rattus norvegicus)
    Pdgfrb1   -- platelet derived growth factor receptor, beta polypeptide 83.93(n)
    86.51(a)
    24629  NM_031525.1  NP_113713.1 
    mouse
    (Mus musculus)
    Pdgfrb1, 5 18 (30.00 cM)5
    platelet derived growth factor receptor, beta polypeptide1, 5 83.76(n)1
    85.97(a)1
    185961  NM_008809.11  NP_032835.11 
     AI5288095  AI8456025  (see all 15)
    chicken
    (Gallus gallus)
    PDGFRB1   -- platelet-derived growth factor receptor, beta polypeptide 70.05(n)
    68.11(a)
    770488  XM_001233829.1  XP_001233830.1 
    About this table        Species with no ortholog for PDGFRB

    ENSEMBL Gene Tree for PDGFRB
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PDGFRB gene
    PDGFRA2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/328 NCBI SNPs in PDGFRB are shown (see all 328 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 160)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 5 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs23022731,2
    C,F,H,O149515448(+) TGGCTG/ATCTGC 1 -- ut51 ese37Minor allele frequency- A:0.12EA NA EU WA 2084
    rs38286101,2
    A,C,F,H149515818(+) TTTTCC/ACTCTG 1 -- ng316Minor allele frequency- A:0.48MN EA EU WA 712
    rs37563141,2
    A,C,F149517539(+) ACTGGC/TTCCCA 1 -- ng311Minor allele frequency- T:0.50EA 1486
    rs37563121,2
    A,C,F149517387(+) CCCAGG/ACCCCT 1 -- ng314Minor allele frequency- A:0.41NA EA 362
    --
    rs22295611,2
    A,C,F149475480(-) CCCCCA/C/GCTGCC 1 -- ut31 trp31MN 36
    rs68874541,2
    C,F,H149475177(+) GATTCG/AGTCTC 1 -- ut317Minor allele frequency- A:0.04EU EA WA NA 550
    rs22295621,2
    C,F,H149475446(-) GCCTGA/GCCGGG 1 -- ut31 ese39Minor allele frequency- G:0.30MN EU EA WA 882
    rs171109441,2
    C,F,H149495590(+) AGAGAT/ACTGTG 1 F/I mis1 ese311Minor allele frequency- A:0.04NA EU EA WA 976
    rs345860481,2
    C,F149493432(+) TAACTC/TGGCAC 1 E/K mis14Minor allele frequency- T:0.03EU EA WA 420
    rs37563111,2
    A,C149517273(+) CCCACA/GGGGCA 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for PDGFRB (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 173410

    UniProtKB/Swiss-Prot: PGFRB_HUMAN, P09619

  • 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)
  • A chromosomal aberration involving PDGFRB may be a cause of acute myelogenous leukemia.
    Translocation t(5;14)(q33;q32) with TRIP11. The fusion protein may be involved in clonal evolution
    of leukemia and eosinophilia
  • A chromosomal aberration involving PDGFRB may be a cause of juvenile myelomonocytic
    leukemia. Translocation t(5;17)(q33;p11.2) with SPECC1
  • A chromosomal aberration involving PDGFRB is a cause in many instances of chronic
    myeloproliferative disorder with eosinophilia (MPE) [MIM:131440]. Translocation t(5;12) with ETV6
    on chromosome 12 creating an PDGFRB-ETV6 fusion protein
  • A chromosomal aberration involving PDGFRB may be the cause of a myeloproliferative
    disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a
    PDE4DIP-PDGFRB fusion protein
  • 10/95 Novoseek disease relationships for PDGFRB gene (see all 95 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastrointestinal stromal tumor 78.30 9 15224284 (1), 16294026 (1), 11914627 (1), 19366796 (1) (see all 9)
    leukemia myelomonocytic chronic 73.15 13 11588050 (2), 9616134 (1), 12908555 (1), 19100521 (1) (see all 11)
    myeloproliferative neoplasm 72.06 8 19006078 (1), 18971950 (1), 19175693 (1), 19100521 (1)
    hypereosinophilic syndrome 71.56 1 18706197 (1)
    myeloproliferative disorders 68.05 29 17296564 (3), 18262053 (2), 15477214 (2), 10910073 (1) (see all 19)
    myeloid leukemia chronic 66.43 13 12480706 (1), 16143881 (1), 11914627 (1), 12181402 (1) (see all 13)
    dermatofibrosarcoma protuberans 64.15 4 17431412 (1), 15532894 (1), 15794712 (1)
    tumors 62.54 274 16988946 (5), 15705896 (4), 15385107 (4), 12644539 (4) (see all 99)
    idiopathic hypereosinophilic syndrome 53.35 1 19301902 (1)
    mastocytosis systemic 51.57 8 15995325 (1)
    About this table

    Genetic Association Database: PDGFRB
    Human Genome Epidemiology Navigator: PDGFRB (5 documents)
    Tumor Gene Database: PDGFRB

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/823 PubMed articles for PDGFRB gene (see all 823 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      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, and/or H-InvDB)
    About This Section

    Entrez Gene: 5159 HGNC: 8804 AceView: PDGFRBandCSF1R Ensembl:ENSG00000113721 euGenes: HUgn5159
    ECgene: PDGFRB H-InvDB: PDGFRB
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for PDGFRB Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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