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PDGFRB (platelet-derived growth factor receptor, beta polypeptide)

Written2005-07José Luis Vizmanos
Departamento de Genética, Facultad de Ciencias, Universidad de Navarra, 31008 Pamplona, Navarra, Espana

(Note : for Links provided by Atlas : click)

Identity

Alias_namesPDGFR
platelet-derived growth factor receptor
Alias_symbol (synonym)JTK12
CD140b
PDGFR1
Other aliasBC032224
J03278
M21616
CD140B
PDGF-R-beta
HGNC (Hugo) PDGFRB
LocusID (NCBI) 5159
Atlas_Id 21
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 150113839 and ends at 150155859 bp from pter ( according to hg19-Feb_2009)  [Mapping PDGFRB.png]
Local_order MXI1 (MAX-interacting protein 1) is more telomeric. XPNPEP1 (X-prolylaminopeptidase 1) is more telomeric.
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)		ATF7IP (12p13.1) / PDGFRB (5q32)BIN2 (12q13.13) / PDGFRB (5q32)CAPRIN1 (11p13) / PDGFRB (5q32)
CCDC6 (10q21.2) / PDGFRB (5q32)CCDC88C (14q32.11) / PDGFRB (5q32)CEP85L (6q22.31) / PDGFRB (5q32)
DTD1 (20p11.23) / PDGFRB (5q32)EBF1 (5q33.3) / PDGFRB (5q32)ERC1 (12p13.33) / PDGFRB (5q32)
ETV6 (12p13.2) / PDGFRB (5q32)GIT2 (12q24.11) / PDGFRB (5q32)GOLGA4 (3p22.2) / PDGFRB (5q32)
GOLGB1 (3q13.33) / PDGFRB (5q32)HIP1 (7q11.23) / PDGFRB (5q32)HRH4 (18q11.2) / PDGFRB (5q32)
KANK1 (9p24.3) / PDGFRB (5q32)KMT2A (11q23.3) / PDGFRB (5q32)LOC100130987 (11q13.2) / PDGFRB (5q32)
MAEA (4p16.3) / PDGFRB (5q32)MPRIP (17p11.2) / PDGFRB (5q32)MYO18A (17q11.2) / PDGFRB (5q32)
NAB2 (12q13.3) / PDGFRB (5q32)NDE1 (16p13.11) / PDGFRB (5q32)NIN (14q22.1) / PDGFRB (5q32)
PDE4DIP (1q21.1) / PDGFRB (5q32)PDGFRB (5q32) / CCDC6 (10q21.2)PDGFRB (5q32) / DTD1 (20p11.23)
PDGFRB (5q32) / ETV6 (12p13.2)PDGFRB (5q32) / FAR1 (11p15.2)PDGFRB (5q32) / HIP1 (7q11.23)
PDGFRB (5q32) / HRH4 (18q11.2)PDGFRB (5q32) / KPNA6 (1p35.1)PDGFRB (5q32) / MAEA (4p16.3)
PDGFRB (5q32) / NDE1 (16p13.11)PDGFRB (5q32) / NIN (14q22.1)PDGFRB (5q32) / PDE4DIP (1q21.1)
PDGFRB (5q32) / RAB5EP ()PDGFRB (5q32) / RABEP1 (17p13.2)PDGFRB (5q32) / SPECC1 (17p11.2)
PDGFRB (5q32) / TRIP11 (14q32.12)PRKG2 (4q21.21) / PDGFRB (5q32)RABEP1 (17p13.2) / PDGFRB (5q32)
SART3 (12q23.3) / PDGFRB (5q32)SPECC1 (17p11.2) / PDGFRB (5q32)SPTBN1 (2p16.2) / PDGFRB (5q32)
SYN1 (Xp11.23) / PDGFRB (5q32)TP53BP1 (15q15.3) / PDGFRB (5q32)TPM3 (1q21.3) / PDGFRB (5q32)
TRIP11 (14q32.12) / PDGFRB (5q32)WDR48 (3p22.2) / PDGFRB (5q32)

DNA/RNA

 
  Genomic structure of PDGFRB. Black boxes indicate exons, small ones indicate untranslated exons.
Description 23 exons spanning 149.5 Mb on 5q31-q32. Transcription is from telomere to centromere.
Transcription 1 transcript in RefSeq encoding NP_002600. 1 transcript in EnsEMBL encoding ENSP00000261799.

Protein

Note PDGFRB; Beta platelet-derived growth factor receptor [Precursor]
 
  Schematic representation of PDGFRB. Ig-like domains: extracellular immunoglobulin-like domains involved in protein-ligand interaction, TM: transmembrane domain, Split-TK domain: RTK class III cytoplasmic kinase domain with an insertion of 70 to 100 hydrophilic residues.
Description Beta platelet-derived growth factor receptor precursor (PDGF-R-beta) (CD140b antigen).
Localisation Type I membrane protein.
Function is receptor that binds specifically to PDGFB and has a tyrosine-protein kinase activity. Is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor (PDGF) family. The PDGFR/PDGF system includes two receptors (PDGFRA and PDGFRB) and four ligands (, B, C and D). The receptors PDGFRA and PDGFRB are related in sequence and both are members of the class III subtype of receptor tyrosine kinases (RTKs). Other class III RTKs are CSF1R, KIT and FLT3. Mature PDGFRB consist of 1067 amino acids and can bind strongly to PDGF-BB and -DD homodimers, but weakly to AB heterodimers and not to PDGF-AA homodimer. The different ligands seem to induce different signals.
Homology PDGFRB presents homology in several species. It also belongs to GROWTH FACTOR RECEPTOR PRECURSOR EC_2.7.1.112 TYROSINE KINASE protein family.

Mutations

Germinal See SNPs at EnsEMBL (http://www.ensembl.org/Homo_sapiens/genesnpview?db=core&gene=ENSG00000113721).

Implicated in

Note
Note Some rare gene fusions involving PDGFRB have been described in several patients with chronic myeloproliferative disorders (CMPD), myelodysplastic/myeloproliferative syndromes (MDS/MPD) and AML, often associated with eosinophilia and splenomegaly. Transformation to acute leukemia has been observed in a minor proportion of cases. Some of them respond to imatinib mesylate.
  
  
Entity t(1;5)(q23;q33)
Disease described in an 11 month old girl with myelodysplastic/myeloproliferative syndrome with eosinophilia
Prognosis bad
Cytogenetics t(1;5)(q23;q33)
Hybrid/Mutated Gene 5' PDE4DIP-PDGFRB 3'
Abnormal Protein PDE4DIP-PDGFRB
  
  
Entity t(1;3;5)(p36;p21;q33)
Note PDGFRB fusion partner unpublished. Translocation described in a patient with a chronic myeloproliferative disorder
Disease CMPD
Cytogenetics t(1;3;5)(p36;p21;q33)
Hybrid/Mutated Gene unidentified
Abnormal Protein unidentified.
  
  
Entity t(2;12;5)(q37;q22;q33)
Note PDGFRB fusion partner unpublished.
Disease Translocation described in a patient with a myelodysplastic syndrome
Cytogenetics t(2;12;5)(q37;q22;q33)
Hybrid/Mutated Gene unidentified.
Abnormal Protein unidentified.
  
  
Entity t(3;5)(p21;q31)
Note PDGFRB fusion partner unpublished.
Disease Translocation described in a patient with an atypical CML
Cytogenetics t(3;5)(p21;q31)
Hybrid/Mutated Gene unidentified.
Abnormal Protein unidentified.
  
  
Entity t(5;7)(q33;q11.2)
Disease Described in two patients with CMML/eosinophilia and CMML
Prognosis unknown.
Cytogenetics t(5;7)(q33;q11.2)
Hybrid/Mutated Gene 5' HIP1-PDGFRB 3'
Abnormal Protein HIP1-PDGFRB
  
  
Entity t(5;10)(q33;q22)
Disease Described in five cases with atypical CML.
Prognosis good, imatinib mesylate responsive disease.
Cytogenetics t(5;10)(q33;q22)
Hybrid/Mutated Gene 5' H4-PDGFRB 3'
Abnormal Protein H4-PDGFRB
  
  
Entity t(5;12)(q33;p13)
Disease Associated to atypical CML, AML, chronic myelomonocytic leukaemia (CMML), chronic eosinophilic leukaemia (CEL) or unclassified myeloproliferative disorders
Prognosis Good.
Cytogenetics t(5;12)(q33;p13)
Hybrid/Mutated Gene 5' ETV6-PDGFRB 3'
Abnormal Protein ETV6-PDGFRB
  
  
Entity t(5;14)(q33;q32)
Disease Described in a patient with AML and a t(7;11)(p15;p15) at initial diagnosis, who relapsed with a prominent eosinophilia, hepatosplenomegaly and t(5;14) as an additional cytogenetic abnormality.
Prognosis Good.
Cytogenetics t(5;14)(q33;q32)
Hybrid/Mutated Gene 5' TRIP11-PDGFRB 3'
Abnormal Protein TRIP11-PDGFRB
  
  
Entity t(5;14)(q33;q24)
Disease described in a patient with a chronic myeloproliferative disorder with eosinophilia
Prognosis Good, imatinib mesylate responsive disease.
Cytogenetics t(5;14)(q33;q24)
Hybrid/Mutated Gene 5' NIN-PDGFRB 3'
Abnormal Protein NIN-PDGFRB
  
  
Entity t(5;14)(q31;q32)
Disease described in a patient with a chronic myeloproliferative disorder with peripheral blood monocitosis
Prognosis Good, imatinib mesylate responsive disease.
Cytogenetics t(5;14)(q31;q32)
Hybrid/Mutated Gene 5' KIAA1509-PDGFRB 3'
Abnormal Protein 5' KIAA1509-PDGFRB 3'
  
  
Entity t(5;15)(q33;q22)
Disease described in a patient with a chronic myeloproliferative disorder with eosinophilia
Prognosis Imatinib mesylate responsive disease but the patient described resistance was developed.
Cytogenetics t(5;15)(q33;q22)
Hybrid/Mutated Gene 5' TP53BP1-PDGFRB 3'
Abnormal Protein TP53BP1-PDGFRB
  
  
Entity t(5;17)(q33;p11.2)
Disease JMML/CMML
Prognosis Good.
Cytogenetics t(5;17)(q33;p11.2)
Hybrid/Mutated Gene 5' HCMOGT-PDGFRB 3' fusion described in an 18 month old boy with juvenile myelomonocytic leukemia and eosinophilia
Abnormal Protein HCMOGT-PDGFRB
  
  
Entity t(5;17)(q33;p13)
Disease described in a patient with chronic myelomonocitic leukemia
Prognosis unknown.
Cytogenetics t(5;17)(q33;p13)
Hybrid/Mutated Gene 5' RABEP1-PDGFRB 3'
Abnormal Protein RABEP1-PDGFRB
  

Breakpoints

 

Bibliography

Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.
Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H
Blood. 1997 ; 90 (11) : 4271-4277.
PMID 9373237
 
Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.
Apperley JF, Gardembas M, Melo JV, Russell-Jones R, Bain BJ, Baxter EJ, Chase A, Chessells JM, Colombat M, Dearden CE, Dimitrijevic S, Mahon FX, Marin D, Nikolova Z, Olavarria E, Silberman S, Schultheis B, Cross NC, Goldman JM
The New England journal of medicine. 2002 ; 347 (7) : 481-487.
PMID 12181402
 
Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.
Baxter EJ, Kulkarni S, Vizmanos JL, Jaju R, Martinelli G, Testoni N, Hughes G, Salamanchuk Z, Calasanz MJ, Lahortiga I, Pocock CF, Dang R, Fidler C, Wainscoat JS, Boultwood J, Cross NC
British journal of haematology. 2003 ; 120 (2) : 251-256.
PMID 12542482
 
Imatinib mesylate elicits positive clinical response in atypical chronic myeloid leukemia involving the platelet-derived growth factor receptor beta.
Garcia JL, Font de Mora J, Hernandez JM, Queizan JA, Gutierrez NC, Hernandez JM, San Miguel JF
Blood. 2003 ; 102 (7) : 2699-2700.
PMID 14504072
 
Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.
Golub TR, Barker GF, Lovett M, Gilliland DG
Cell. 1994 ; 77 (2) : 307-316.
PMID 8168137
 
p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder.
Grand FH, Burgstaller S, Kühr T, Baxter EJ, Webersinke G, Thaler J, Chase AJ, Cross NC
Cancer research. 2004 ; 64 (20) : 7216-7219.
PMID 15492236
 
Sensitivity to imatinib but low frequency of the TEL/PDGFRbeta fusion protein in chronic myelomonocytic leukemia.
Gunby RH, Cazzaniga G, Tassi E, Le Coutre P, Pogliani E, Specchia G, Biondi A, Gambacorti-Passerini C
Haematologica. 2003 ; 88 (4) : 408-415.
PMID 12681968
 
Oncogenic derivatives of platelet-derived growth factor receptors.
Jones AV, Cross NC
Cellular and molecular life sciences : CMLS. 2004 ; 61 (23) : 2912-2923.
PMID 15583853
 
Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21).
Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC
Cancer research. 2000 ; 60 (13) : 3592-3598.
PMID 10910073
 
KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).
Levine RL, Wadleigh M, Sternberg DW, Wlodarska I, Galinsky I, Stone RM, DeAngelo DJ, Gilliland DG, Cools J
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (1) : 27-30.
PMID 15496975
 
Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia.
Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ, Dunbar CE
Blood. 2001 ; 98 (8) : 2518-2525.
PMID 11588050
 
HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2).
Morerio C, Acquila M, Rosanda C, Rapella A, Dufour C, Locatelli F, Maserati E, Pasquali F, Panarello C
Cancer research. 2004 ; 64 (8) : 2649-2651.
PMID 15087372
 
Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).
Ross TS, Bernard OA, Berger R, Gilliland DG
Blood. 1998 ; 91 (12) : 4419-4426.
PMID 9616134
 
H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22).
Schwaller J, Anastasiadou E, Cain D, Kutok J, Wojiski S, Williams IR, LaStarza R, Crescenzi B, Sternberg DW, Andreasson P, Schiavo R, Siena S, Mecucci C, Gilliland DG
Blood. 2001 ; 97 (12) : 3910-3918.
PMID 11389034
 
Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta.
Steer EJ, Cross NC
Acta haematologica. 2002 ; 107 (2) : 113-122.
PMID 11919393
 
NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder.
Vizmanos JL, Novo FJ, Rom´n JP, Baxter EJ, Lahortiga I, Larr´yoz MJ, Odero MD, Giraldo P, Calasanz MJ, Cross NC
Cancer research. 2004 ; 64 (8) : 2673-2676.
PMID 15087377
 
Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA, Aguiar RC
Blood. 2003 ; 102 (12) : 4187-4190.
PMID 12907457
 

Citation

This paper should be referenced as such :
Vizmanos, JL
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):295-299.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PDGFRBID21ch5q32.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 36 ]
  12p abnormalities in myeloid malignancies
8p11 myeloproliferative syndrome (FGFR1)
Atypical Chronic Myeloid Leukemia (aCML)
Acute myeloid leukemia with myelodysplasia related changes
Classification of myelodysplasic syndromes 1999
Chronic Myelomonocytic Leukemia (CMML)
del(5)(q32q33) EBF1/PDGFRB
del(4)(q12q12) FIP1L1/PDGFRA
der(5)t(1;5)(q12-q25;q13-q35)
Myeloid/Lymphoid neoplasms with abnormalities of PDGFRA
Myeloid/Lymphoid neoplasms with abnormalities of PDGFRB
t(1;5)(q22;q33) PDE4DIP/PDGFRB
t(2;4)(p22;q12) STRN/PDGFRA
t(2;5)(p21;q33) SPTBN1/PDGFRB
t(4;5)(q21;q33) PRKG2/PDGFRB
t(4;10)(q12;p11) KIF5B/PDGFRA
t(4;12)(q12;p13) PDGFRA/ETV6
t(5;6)(q33;q23) CEP85L/PDGFRB
t(5;9)(q32;p24) KANK1/PDGFRB
t(5;11)(q33;p13) CAPRIN1/PDGFRB
t(5;11)(q33;q13) NUMA1/PDGFRB a novel fusion
t(5;12)(q33;p13) ETV6/PDGFRB
t(5;12)(q33;p13) ERC1/PDGFRB
t(5;12)(q33;p13) ATF7IP/PDGFRB
t(5;12)(q33;q24) GIT2/PDGFRB
t(5;14)(q33;q32) PDGFRB/TRIP11
t(5;14)(q33;q24) NIN/PDGFRB
t(5;14)(q33;q32) PDGFRB/CCDC88C
t(5;15)(q33;q22) TP53BP1/PDGFRB
t(5;16)(q32;p13) NDE1/PDGFRB
t(5;17)(q33;p11.2) SPECC1/PDGFRB
t(5;17)(q33;p13) RABEP1/PDGFRB
t(5;7)(q33;q11) HIP1/PDGFRB
t(10;12)(q24;p13) ETV6/GOT1
t(5;10)(q33;q21) CCDC6/PDGFRB
1q translocations (unbalanced) in myeloid malignancies

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Desmoid-type fibromatosis
Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Congenital myofibromatosis

External links

Nomenclature
HGNC (Hugo)PDGFRB   8804
Cards
AtlasPDGFRBID21ch5q32
Entrez_Gene (NCBI)PDGFRB  5159  platelet derived growth factor receptor beta
AliasesCD140B; IBGC4; IMF1; JTK12; 
KOGS; PDGFR; PDGFR-1; PDGFR1; PENTT
GeneCards (Weizmann)PDGFRB
Ensembl hg19 (Hinxton)ENSG00000113721 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113721 [Gene_View]  chr5:150113839-150155859 [Contig_View]  PDGFRB [Vega]
ICGC DataPortalENSG00000113721
TCGA cBioPortalPDGFRB
AceView (NCBI)PDGFRB
Genatlas (Paris)PDGFRB
WikiGenes5159
SOURCE (Princeton)PDGFRB
Genetics Home Reference (NIH)PDGFRB
Genomic and cartography
GoldenPath hg38 (UCSC)PDGFRB  -     chr5:150113839-150155859 -  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDGFRB  -     5q32   [Description]    (hg19-Feb_2009)
EnsemblPDGFRB - 5q32 [CytoView hg19]  PDGFRB - 5q32 [CytoView hg38]
Mapping of homologs : NCBIPDGFRB [Mapview hg19]  PDGFRB [Mapview hg38]
OMIM131440   173410   213600   228550   601812   615007   616592   
Gene and transcription
Genbank (Entrez)AB209657 AI346188 AK293093 BC032224 CN268096
RefSeq transcript (Entrez)NM_002609
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDGFRB
Cluster EST : UnigeneHs.509067 [ NCBI ]
CGAP (NCI)Hs.509067
Alternative Splicing GalleryENSG00000113721
Gene ExpressionPDGFRB [ NCBI-GEO ]   PDGFRB [ EBI - ARRAY_EXPRESS ]   PDGFRB [ SEEK ]   PDGFRB [ MEM ]
Gene Expression Viewer (FireBrowse)PDGFRB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5159
GTEX Portal (Tissue expression)PDGFRB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09619   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09619  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09619
Splice isoforms : SwissVarP09619
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusP09619
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_III (PS00240)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Immunoglobulin    Kinase-like_dom    PGFRB    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_CSF1/PDGF_rcpt    Tyr_kinase_rcpt_3_CS   
Domain families : Pfam (Sanger)I-set (PF07679)    ig (PF00047)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam07679    pfam00047    pfam07714   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  TyrKc (SM00219)  
Conserved Domain (NCBI)PDGFRB
DMDM Disease mutations5159
Blocks (Seattle)PDGFRB
PDB (SRS)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
PDB (PDBSum)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
PDB (IMB)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
PDB (RSDB)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
Structural Biology KnowledgeBase1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
SCOP (Structural Classification of Proteins)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
CATH (Classification of proteins structures)1GQ5    1H9O    1LWP    1SHA    2L6W    2PLD    2PLE    3MJG   
SuperfamilyP09619
Human Protein AtlasENSG00000113721
Peptide AtlasP09619
HPRD01423
IPIIPI00015902   IPI00909967   IPI01010238   IPI00974584   IPI00984785   IPI00975732   
Protein Interaction databases
DIP (DOE-UCLA)P09619
IntAct (EBI)P09619
FunCoupENSG00000113721
BioGRIDPDGFRB
STRING (EMBL)PDGFRB
ZODIACPDGFRB
Ontologies - Pathways
QuickGOP09619
Ontology : AmiGOMAPK cascade  protein tyrosine kinase activity  platelet activating factor receptor activity  platelet-derived growth factor-activated receptor activity  platelet-derived growth factor beta-receptor activity  platelet-derived growth factor beta-receptor activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  platelet-derived growth factor receptor binding  protein binding  ATP binding  nucleus  cytoplasm  plasma membrane  focal adhesion  glycosaminoglycan biosynthetic process  signal transduction  G-protein coupled receptor signaling pathway  aging  positive regulation of cell proliferation  male gonad development  response to toxic substance  cell surface  positive regulation of phospholipase C activity  regulation of phosphatidylinositol 3-kinase signaling  positive regulation of phosphatidylinositol 3-kinase signaling  positive regulation of smooth muscle cell migration  positive regulation of smooth muscle cell migration  membrane  integral component of membrane  apical plasma membrane  cell migration  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  positive regulation of cell migration  intrinsic component of plasma membrane  cytoplasmic vesicle  response to estradiol  positive regulation of phosphoprotein phosphatase activity  response to retinoic acid  regulation of actin cytoskeleton organization  positive regulation of collagen biosynthetic process  response to fluid shear stress  positive regulation of Rho protein signal transduction  cell migration involved in vasculogenesis  metanephric mesenchymal cell migration  platelet-derived growth factor receptor-beta signaling pathway  positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway  aorta morphogenesis  cellular response to platelet-derived growth factor stimulus  vascular endothelial growth factor binding  positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  wound healing  response to hydrogen peroxide  positive regulation of apoptotic process  negative regulation of apoptotic process  lysosomal lumen  positive regulation of MAP kinase activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  positive regulation of phosphatidylinositol 3-kinase activity  response to estrogen  positive regulation of mitotic nuclear division  phosphatidylinositol metabolic process  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  platelet-derived growth factor receptor signaling pathway  phosphatidylinositol-mediated signaling  phosphatidylinositol-mediated signaling  positive regulation of fibroblast proliferation  platelet-derived growth factor binding  platelet-derived growth factor binding  positive regulation of smooth muscle cell proliferation  positive regulation of smooth muscle cell proliferation  inner ear development  positive regulation of chemotaxis  cardiac myofibril assembly  response to hyperoxia  cell chemotaxis  lung growth  cell migration involved in coronary angiogenesis  retina vasculature development in camera-type eye  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  smooth muscle cell chemotaxis  metanephric mesenchyme development  metanephric glomerular mesangial cell proliferation involved in metanephros development  metanephric glomerular capillary formation  metanephric comma-shaped body morphogenesis  metanephric S-shaped body morphogenesis  positive regulation of calcium ion import  positive regulation of reactive oxygen species metabolic process  positive regulation of hepatic stellate cell activation  positive regulation of DNA biosynthetic process  negative regulation of platelet-derived growth factor receptor-beta signaling pathway  
Ontology : EGO-EBIMAPK cascade  protein tyrosine kinase activity  platelet activating factor receptor activity  platelet-derived growth factor-activated receptor activity  platelet-derived growth factor beta-receptor activity  platelet-derived growth factor beta-receptor activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  platelet-derived growth factor receptor binding  protein binding  ATP binding  nucleus  cytoplasm  plasma membrane  focal adhesion  glycosaminoglycan biosynthetic process  signal transduction  G-protein coupled receptor signaling pathway  aging  positive regulation of cell proliferation  male gonad development  response to toxic substance  cell surface  positive regulation of phospholipase C activity  regulation of phosphatidylinositol 3-kinase signaling  positive regulation of phosphatidylinositol 3-kinase signaling  positive regulation of smooth muscle cell migration  positive regulation of smooth muscle cell migration  membrane  integral component of membrane  apical plasma membrane  cell migration  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  positive regulation of cell migration  intrinsic component of plasma membrane  cytoplasmic vesicle  response to estradiol  positive regulation of phosphoprotein phosphatase activity  response to retinoic acid  regulation of actin cytoskeleton organization  positive regulation of collagen biosynthetic process  response to fluid shear stress  positive regulation of Rho protein signal transduction  cell migration involved in vasculogenesis  metanephric mesenchymal cell migration  platelet-derived growth factor receptor-beta signaling pathway  positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway  aorta morphogenesis  cellular response to platelet-derived growth factor stimulus  vascular endothelial growth factor binding  positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  wound healing  response to hydrogen peroxide  positive regulation of apoptotic process  negative regulation of apoptotic process  lysosomal lumen  positive regulation of MAP kinase activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  positive regulation of phosphatidylinositol 3-kinase activity  response to estrogen  positive regulation of mitotic nuclear division  phosphatidylinositol metabolic process  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  platelet-derived growth factor receptor signaling pathway  phosphatidylinositol-mediated signaling  phosphatidylinositol-mediated signaling  positive regulation of fibroblast proliferation  platelet-derived growth factor binding  platelet-derived growth factor binding  positive regulation of smooth muscle cell proliferation  positive regulation of smooth muscle cell proliferation  inner ear development  positive regulation of chemotaxis  cardiac myofibril assembly  response to hyperoxia  cell chemotaxis  lung growth  cell migration involved in coronary angiogenesis  retina vasculature development in camera-type eye  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  smooth muscle cell chemotaxis  metanephric mesenchyme development  metanephric glomerular mesangial cell proliferation involved in metanephros development  metanephric glomerular capillary formation  metanephric comma-shaped body morphogenesis  metanephric S-shaped body morphogenesis  positive regulation of calcium ion import  positive regulation of reactive oxygen species metabolic process  positive regulation of hepatic stellate cell activation  positive regulation of DNA biosynthetic process  negative regulation of platelet-derived growth factor receptor-beta signaling pathway  
Pathways : KEGG   
REACTOMEP09619 [protein]
REACTOME PathwaysR-HSA-6811558 [pathway]   
NDEx NetworkPDGFRB
Atlas of Cancer Signalling NetworkPDGFRB
Wikipedia pathwaysPDGFRB
Orthology - Evolution
OrthoDB5159
GeneTree (enSembl)ENSG00000113721
Phylogenetic Trees/Animal Genes : TreeFamPDGFRB
HOVERGENP09619
HOGENOMP09619
Homologs : HomoloGenePDGFRB
Homology/Alignments : Family Browser (UCSC)PDGFRB
Gene fusions - Rearrangements
Fusion : MitelmanATF7IP/PDGFRB [12p13.1/5q32]  [t(5;12)(q32;p13)]  
Fusion : MitelmanBIN2/PDGFRB [12q13.13/5q32]  [t(5;12)(q32;q13)]  
Fusion : MitelmanCCDC6/PDGFRB [10q21.2/5q32]  [t(5;10)(q32;q21)]  
Fusion : MitelmanCCDC88C/PDGFRB [14q32.11/5q32]  [t(5;14)(q32;q32)]  
Fusion : MitelmanDTD1/PDGFRB [20p11.23/5q32]  [t(5;20)(q32;p11)]  
Fusion : MitelmanEBF1/PDGFRB [5q33.3/5q32]  [del(5)(q32q33)]  [del(5)(q33)]  
[del(5)(q33q33)]  [t(5;5)(q32;q33)]  
Fusion : MitelmanERC1/PDGFRB [12p13.33/5q32]  [t(5;12)(q32;p13)]  
Fusion : MitelmanETV6/PDGFRB [12p13.2/5q32]  [t(5;12)(q32;p13)]  
Fusion : MitelmanGIT2/PDGFRB [12q24.11/5q32]  [t(5;12)(q32;q24)]  
Fusion : MitelmanGOLGA4/PDGFRB [3p22.2/5q32]  [t(3;5)(p22;q32)]  
Fusion : MitelmanHIP1/PDGFRB [7q11.23/5q32]  [t(5;7)(q32;q11)]  
Fusion : MitelmanKANK1/PDGFRB [9p24.3/5q32]  [t(5;9)(q32;p24)]  
Fusion : MitelmanMYO18A/PDGFRB [17q11.2/5q32]  [t(5;17)(q32;q11)]  
Fusion : MitelmanNAB2/PDGFRB [12q13.3/5q32]  [t(5;12)(q32;q13)]  
Fusion : MitelmanNDE1/PDGFRB [16p13.11/5q32]  [t(5;16)(q32;p13)]  
Fusion : MitelmanNIN/PDGFRB [14q22.1/5q32]  [t(5;14)(q32;q22)]  
Fusion : MitelmanPDE4DIP/PDGFRB [1q21.1/5q32]  [t(1;5)(q21;q32)]  
Fusion : MitelmanPDGFRB/DTD1 [5q32/20p11.23]  [t(5;20)(q32;p11)]  
Fusion : MitelmanPDGFRB/FAR1 [5q32/11p15.2]  [t(5;11)(q32;p15)]  
Fusion : MitelmanPRKG2/PDGFRB [4q21.21/5q32]  [t(4;5)(q21;q32)]  
Fusion : MitelmanRABEP1/PDGFRB [17p13.2/5q32]  [t(5;17)(q32;p13)]  
Fusion : MitelmanSART3/PDGFRB [12q23.3/5q32]  [t(5;12)(q32;q23)]  
Fusion : MitelmanSPECC1/PDGFRB [17p11.2/5q32]  [t(5;17)(q32;p11)]  
Fusion : MitelmanSPTBN1/PDGFRB [2p16.2/5q32]  [t(2;5)(p16;q32)]  
Fusion : MitelmanTP53BP1/PDGFRB [15q15.3/5q32]  [t(5;15)(q32;q15)]  
Fusion : MitelmanTPM3/PDGFRB [1q21.3/5q32]  [t(1;5)(q21;q32)]  
Fusion : MitelmanTRIP11/PDGFRB [14q32.12/5q32]  [t(5;14)(q32;q32)]  
Fusion: TCGAPDGFRB 5q32 FAR1 11p15.2 LUAD
Fusion : TICdbCCDC6 [10q21.2]  -  PDGFRB [5q32]
Fusion : TICdbCCDC88C [14q32.11]  -  PDGFRB [5q32]
Fusion : TICdbCEP85L [6q22.31]  -  PDGFRB [5q32]
Fusion : TICdbERC1 [12p13.33]  -  PDGFRB [5q32]
Fusion : TICdbETV6 [12p13.2]  -  PDGFRB [5q32]
Fusion : TICdbGIT2 [12q24.11]  -  PDGFRB [5q32]
Fusion : TICdbGOLGA4 [3p22.2]  -  PDGFRB [5q32]
Fusion : TICdbHIP1 [7q11.23]  -  PDGFRB [5q32]
Fusion : TICdbNIN [14q22.1]  -  PDGFRB [5q32]
Fusion : TICdbPDE4DIP [1q21.1]  -  PDGFRB [5q32]
Fusion : TICdbPRKG2 [4q21.21]  -  PDGFRB [5q32]
Fusion : TICdbSPECC1 [17p11.2]  -  PDGFRB [5q32]
Fusion : TICdbTP53BP1 [15q15.3]  -  PDGFRB [5q32]
Fusion : TICdbTPM3 [1q21.3]  -  PDGFRB [5q32]
Fusion : TICdbTRIP11 [14q32.12]  -  PDGFRB [5q32]
Fusion : TICdbWDR48 [3p22.2]  -  PDGFRB [5q32]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDGFRB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDGFRB
dbVarPDGFRB
ClinVarPDGFRB
1000_GenomesPDGFRB 
Exome Variant ServerPDGFRB
ExAC (Exome Aggregation Consortium)PDGFRB (select the gene name)
Genetic variants : HAPMAP5159
Genomic Variants (DGV)PDGFRB [DGVbeta]
DECIPHERPDGFRB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDGFRB 
Mutations
ICGC Data PortalPDGFRB 
TCGA Data PortalPDGFRB 
Broad Tumor PortalPDGFRB
OASIS PortalPDGFRB [ Somatic mutations - Copy number]
Cancer Gene: CensusPDGFRB 
Somatic Mutations in Cancer : COSMICPDGFRB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDGFRB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDGFRB
DgiDB (Drug Gene Interaction Database)PDGFRB
DoCM (Curated mutations)PDGFRB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDGFRB (select a term)
intoGenPDGFRB
NCG5 (London)PDGFRB
Cancer3DPDGFRB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131440    173410    213600    228550    601812    615007    616592   
Orphanet17803    1923    3545    21543    22334    11745    13840   
MedgenPDGFRB
Genetic Testing Registry PDGFRB
NextProtP09619 [Medical]
TSGene5159
GENETestsPDGFRB
Target ValidationPDGFRB
Huge Navigator PDGFRB [HugePedia]
snp3D : Map Gene to Disease5159
BioCentury BCIQPDGFRB
ClinGenPDGFRB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5159
Chemical/Pharm GKB GenePA33148
Clinical trialPDGFRB
Miscellaneous
canSAR (ICR)PDGFRB (select the gene name)
Probes
Litterature
PubMed411 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDGFRB
EVEXPDGFRB
GoPubMedPDGFRB
iHOPPDGFRB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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