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

Identity

Other names	BC032224
	J03278
	M21616
	JTK12
	PDGFR
	CD140B
	PDGFR1
	PDGF-R-beta
HGNC	PDGFRB
Location	5q31-q32
Local_order	MXI1 (MAX-interacting protein 1) is more telomeric. XPNPEP1 (X-prolylaminopeptidase 1) is more telomeric.

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

	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	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

External links

	Nomenclature
HGNC	PDGFRB   8804
Entrez_Gene	PDGFRB  5159  platelet-derived growth factor receptor, beta polypeptide
	Cards
Atlas	PDGFRBID21ch5q32
GeneCards	PDGFRB
Ensembl	PDGFRB [Search_View]   ENSG00000113721 [Gene_View]
Genatlas	PDGFRB
GeneLynx	PDGFRB
eGenome	PDGFRB
euGene	5159
	Genomic and cartography
GoldenPath	PDGFRB  -     chr5:149473595-149515615 -  5q31-q32   [Description]    (hg18-Mar_2006)
Ensembl	PDGFRB - 5q31-q32 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PDGFRB
	Gene and transcription
Genbank	AB209657 [ ENTREZ ]
Genbank	AI346188 [ ENTREZ ]
Genbank	AK293093 [ ENTREZ ]
Genbank	BC032224 [ ENTREZ ]
Genbank	CN268096 [ ENTREZ ]
RefSeq	NM_002609 [ SRS ]    NM_002609 [ ENTREZ ]
RefSeq	AC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeq	AC_000137 [ SRS ]    AC_000137 [ ENTREZ ]
RefSeq	NC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeq	NT_029289 [ SRS ]    NT_029289 [ ENTREZ ]
RefSeq	NW_001838953 [ SRS ]    NW_001838953 [ ENTREZ ]
RefSeq	NW_922784 [ SRS ]    NW_922784 [ ENTREZ ]
AceView	PDGFRB AceView - NCBI
Unigene	Hs.509067 [ SRS ]    Hs.509067 [ NCBI ]     HS509067 [ spliceNest ]
Fast-db	12002 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P09619 [ SRS]    P09619 [ EXPASY ]     P09619 [ INTERPRO ]     P09619 [ UNIPROT ]
Prosite	PS50835 IG_LIKE [ SRS ]    PS50835 IG_LIKE [ Expasy ]
Prosite	PS00107 PROTEIN_KINASE_ATP [ SRS ]    PS00107 PROTEIN_KINASE_ATP [ Expasy ]
Prosite	PS50011 PROTEIN_KINASE_DOM [ SRS ]    PS50011 PROTEIN_KINASE_DOM [ Expasy ]
Prosite	PS00109 PROTEIN_KINASE_TYR [ SRS ]    PS00109 PROTEIN_KINASE_TYR [ Expasy ]
Prosite	PS00240 RECEPTOR_TYR_KIN_III [ SRS ]    PS00240 RECEPTOR_TYR_KIN_III [ Expasy ]
Interpro	IPR013151 Ig [ SRS ]    IPR013151 Ig [ EBI ]
Interpro	IPR007110 Ig-like [ SRS ]    IPR007110 Ig-like [ EBI ]
Interpro	IPR013783 Ig-like_fold [ SRS ]    IPR013783 Ig-like_fold [ EBI ]
Interpro	IPR003599 Ig_sub [ SRS ]    IPR003599 Ig_sub [ EBI ]
Interpro	IPR003598 Ig_sub2 [ SRS ]    IPR003598 Ig_sub2 [ EBI ]
Interpro	IPR000719 Prot_kinase_core [ SRS ]    IPR000719 Prot_kinase_core [ EBI ]
Interpro	IPR017441 Protein_kinase_ATP_bd_CS [ SRS ]    IPR017441 Protein_kinase_ATP_bd_CS [ EBI ]
Interpro	IPR001824 Recept_tyr_kinase-III_CS [ SRS ]    IPR001824 Recept_tyr_kinase-III_CS [ EBI ]
Interpro	IPR001245 Tyr_pkinase [ SRS ]    IPR001245 Tyr_pkinase [ EBI ]
Interpro	IPR008266 Tyr_pkinase_AS [ SRS ]    IPR008266 Tyr_pkinase_AS [ EBI ]
Interpro	IPR016243 TyrPK_CSF1-R [ SRS ]    IPR016243 TyrPK_CSF1-R [ EBI ]
Interpro	IPR009134 VEGFR_N [ SRS ]    IPR009134 VEGFR_N [ EBI ]
CluSTr	P09619
Pfam	PF00047 ig [ SRS ]    PF00047 ig [ Sanger ]    pfam00047 [ NCBI-CDD ]
Pfam	PF07714 Pkinase_Tyr [ SRS ]    PF07714 Pkinase_Tyr [ Sanger ]    pfam07714 [ NCBI-CDD ]
Smart	SM00409 IG [EMBL]
Smart	SM00408 IGc2 [EMBL]
Smart	SM00219 TyrKc [EMBL]
Prodom	PD000001 Prot_kinase[INRA-Toulouse]
Prodom	P09619 PGFRB_HUMAN [ Domain structure ]   P09619 PGFRB_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	P09619
PDB	1GQ5 [ SRS ]    1GQ5 [ PdbSum ],   1GQ5 [ IMB ]   1GQ5 [ RSDB ]
PDB	1H9O [ SRS ]    1H9O [ PdbSum ],   1H9O [ IMB ]   1H9O [ RSDB ]
PDB	1LWP [ SRS ]    1LWP [ PdbSum ],   1LWP [ IMB ]   1LWP [ RSDB ]
HPRD	01423
	Protein Interaction databases
DIP	P09619
IntAct	P09619
	Polymorphism : SNP, mutations, diseases
OMIM	131440;173410    [ map ]
GENECLINICS	131440;173410
SNP	PDGFRB [dbSNP-NCBI]
SNP	NM_002609 [SNP-NCI]
SNP	PDGFRB [GeneSNPs - Utah]  PDGFRB] [HGBASE - SRS]
HAPMAP	PDGFRB [HAPMAP]
COSMIC	PDGFRB [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	PDGFRB [Translocation breakpoints In Cancer]
HGMD	PDGFRB
	General knowledge
Family Browser	PDGFRB [UCSC Family Browser]
SOURCE	NM_002609
SMD	Hs.509067
SAGE	Hs.509067
Enzyme	2.7.10.1 [ Enzyme-Expasy ]   2.7.10.1 [ Enzyme-SRS ]   2.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   2.7.10.1 [ WIT ]
GO	nucleotide binding [Amigo]  nucleotide binding
GO	receptor activity [Amigo]  receptor activity
GO	platelet activating factor receptor activity [Amigo]  platelet activating factor receptor activity
GO	platelet-derived growth factor beta-receptor activity [Amigo]  platelet-derived growth factor beta-receptor activity
GO	vascular endothelial growth factor receptor activity [Amigo]  vascular endothelial growth factor receptor activity
GO	platelet-derived growth factor receptor binding [Amigo]  platelet-derived growth factor receptor binding
GO	ATP binding [Amigo]  ATP binding
GO	signal transduction [Amigo]  signal transduction
GO	positive regulation of cell proliferation [Amigo]  positive regulation of cell proliferation
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
GO	transferase activity [Amigo]  transferase activity
GO	positive regulation of cell migration [Amigo]  positive regulation of cell migration
GO	protein amino acid autophosphorylation [Amigo]  protein amino acid autophosphorylation
GO	platelet-derived growth factor receptor signaling pathway [Amigo]  platelet-derived growth factor receptor signaling pathway
GO	platelet-derived growth factor binding [Amigo]  platelet-derived growth factor binding
GO	regulation of peptidyl-tyrosine phosphorylation [Amigo]  regulation of peptidyl-tyrosine phosphorylation
KEGG	MAPK signaling pathway
KEGG	Calcium signaling pathway
KEGG	Cytokine-cytokine receptor interaction
KEGG	Focal adhesion
KEGG	Gap junction
KEGG	Regulation of actin cytoskeleton
KEGG	Colorectal cancer
PubGene	PDGFRB
TreeFam	PDGFRB
CTD	5159 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	PDGFRB Related clones (RZPD - Berlin)
	PubMed
PubMed	155 Pubmed reference(s) in Entrez

Bibliography

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

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

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

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

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

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

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

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

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

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

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

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, Kˆºhr T, Baxter EJ, Webersinke G, Thaler J, Chase AJ, Cross NC

Cancer research. 2004 ; 64 (20) : 7216-7219.

PMID 15492236

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

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

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, Romˆ°n JP, Baxter EJ, Lahortiga I, Larrˆ°yoz MJ, Odero MD, Giraldo P, Calasanz MJ, Cross NC

Cancer research. 2004 ; 64 (8) : 2673-2676.

PMID 15087377

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	07-2005	José Luis Vizmanos

Citation

This paper should be referenced as such :

Vizmanos JL . PDGFRB (platelet-derived growth factor receptor, beta polypeptide). Atlas Genet Cytogenet Oncol Haematol. July 2005 . URL : http://AtlasGeneticsOncology.org/Genes/PDGFRBID21ch5q32.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Sep 29 18:43:57 2008