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

2005-07-01   José Luis Vizmanos  

Departamento de Genética, Facultad de Ciencias, Universidad de Navarra, 31008 Pamplona, Navarra, Espana

Identity

HGNC
PDGFRB
LOCATION
5q32
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
IMAGE
Atlas Image
LEGEND
PDGFRB (platelet-derived growth factor receptor, beta polypeptide) Hybridization with XL 5q32 PDGFRB break apart probe (Metasystems, Germany) showing PDGFRB at 5q32 - Courtesy Adriana Zamecnikova.
LOCUSID
5159
ALIAS
CD140B,IBGC4,IMF1,JTK12,KOGS,PDGFR,PDGFR-1,PDGFR1,PENTT
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image
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.

Proteins

Note

PDGFRB; Beta platelet-derived growth factor receptor [Precursor]
Atlas Image
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 name
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 gene
5 PDE4DIP-PDGFRB 3
Fusion protein
PDE4DIP-PDGFRB
Entity name
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 gene
unidentified
Fusion protein
unidentified.
Entity name
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 gene
unidentified.
Fusion protein
unidentified.
Entity name
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 gene
unidentified.
Fusion protein
unidentified.
Entity name
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 gene
5 HIP1-PDGFRB 3
Fusion protein
HIP1-PDGFRB
Entity name
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 gene
5 H4-PDGFRB 3
Fusion protein
H4-PDGFRB
Entity name
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 gene
5 ETV6-PDGFRB 3
Fusion protein
ETV6-PDGFRB
Entity name
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 gene
5 TRIP11-PDGFRB 3
Fusion protein
TRIP11-PDGFRB
Entity name
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 gene
5 NIN-PDGFRB 3
Fusion protein
NIN-PDGFRB
Entity name
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 gene
5 KIAA1509-PDGFRB 3
Fusion protein
5 KIAA1509-PDGFRB 3
Entity name
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 gene
5 TP53BP1-PDGFRB 3
Fusion protein
TP53BP1-PDGFRB
Entity name
t(5;17)(q33;p11.2)
Disease
JMML/CMML
Prognosis
Good.
Cytogenetics
t(5;17)(q33;p11.2)
Hybrid gene
5 HCMOGT-PDGFRB 3 fusion described in an 18 month old boy with juvenile myelomonocytic leukemia and eosinophilia
Fusion protein
HCMOGT-PDGFRB
Entity name
t(5;17)(q33;p13)
Disease
described in a patient with chronic myelomonocitic leukemia
Prognosis
unknown.
Cytogenetics
t(5;17)(q33;p13)
Hybrid gene
5 RABEP1-PDGFRB 3
Fusion protein
RABEP1-PDGFRB

Breakpoints

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
93732371997Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.Abe A et al
121814022002Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.Apperley JF et al
125424822003Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.Baxter EJ et al
145040722003Imatinib mesylate elicits positive clinical response in atypical chronic myeloid leukemia involving the platelet-derived growth factor receptor beta.Garcia JL et al
81681371994Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.Golub TR et al
154922362004p53-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 et al
126819682003Sensitivity to imatinib but low frequency of the TEL/PDGFRbeta fusion protein in chronic myelomonocytic leukemia.Gunby RH et al
155838532004Oncogenic derivatives of platelet-derived growth factor receptors.Jones AV et al
109100732000Fusion 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 et al
154969752005KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).Levine RL et al
115880502001Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia.Magnusson MK et al
150873722004HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2).Morerio C et al
96161341998Fusion 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 et al
113890342001H4(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 et al
119193932002Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta.Steer EJ et al
150873772004NIN, 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 et al
129074572003Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.Wilkinson K et al

Other Information

Locus ID:

NCBI: 5159
MIM: 173410
HGNC: 8804
Ensembl: ENSG00000113721

Variants:

dbSNP: 5159
ClinVar: 5159
TCGA: ENSG00000113721
COSMIC: PDGFRB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113721ENST00000261799P09619
ENSG00000113721ENST00000517488E5RJ14
ENSG00000113721ENST00000517957E5RII0
ENSG00000113721ENST00000520579E5RH16

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
Cytokine-cytokine receptor interactionKEGGko04060
Focal adhesionKEGGko04510
Gap junctionKEGGko04540
Regulation of actin cytoskeletonKEGGko04810
GliomaKEGGko05214
Prostate cancerKEGGko05215
MelanomaKEGGko05218
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Cytokine-cytokine receptor interactionKEGGhsa04060
Focal adhesionKEGGhsa04510
Gap junctionKEGGhsa04540
Regulation of actin cytoskeletonKEGGhsa04810
Pathways in cancerKEGGhsa05200
GliomaKEGGhsa05214
Prostate cancerKEGGhsa05215
MelanomaKEGGhsa05218
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Central carbon metabolism in cancerKEGGhsa05230
Choline metabolism in cancerKEGGhsa05231
Central carbon metabolism in cancerKEGGko05230
Choline metabolism in cancerKEGGko05231
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
PI3K/AKT Signaling in CancerREACTOMER-HSA-2219528
Constitutive Signaling by Aberrant PI3K in CancerREACTOMER-HSA-2219530
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
PIP3 activates AKT signalingREACTOMER-HSA-1257604
Negative regulation of the PI3K/AKT networkREACTOMER-HSA-199418
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Role of LAT2/NTAL/LAB on calcium mobilizationREACTOMER-HSA-2730905
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
GAB1 signalosomeREACTOMER-HSA-180292
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
PI3K/AKT activationREACTOMER-HSA-198203
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingREACTOMER-HSA-6811558
EGFR tyrosine kinase inhibitor resistanceKEGGko01521
EGFR tyrosine kinase inhibitor resistanceKEGGhsa01521
RET signalingREACTOMER-HSA-8853659

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalLabelAnnotationassociated
PA162372840sunitinibChemicalMultilinkAnnotationassociated12538485, 19248971
PA29444HRASGenePathwayassociated28362716
PA30196KRASGenePathwayassociated28362716
PA31768NRASGenePathwayassociated28362716
PA7000sorafenibChemicalPathwayassociated28362716

References

Pubmed IDYearTitleCitations
373078232024Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network.6
378995092024Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.0
379414802024Targeting hyperactive platelet-derived growth factor receptor-β signaling in T-cell acute lymphoblastic leukemia and lymphoma.0
383237412024The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL.0
386443992024Targeting deubiquitinase OTUB1 protects vascular smooth muscle cells in atherosclerosis by modulating PDGFRβ.0
387410912024Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.0
373078232024Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network.6
378995092024Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.0
379414802024Targeting hyperactive platelet-derived growth factor receptor-β signaling in T-cell acute lymphoblastic leukemia and lymphoma.0
383237412024The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL.0
386443992024Targeting deubiquitinase OTUB1 protects vascular smooth muscle cells in atherosclerosis by modulating PDGFRβ.0
387410912024Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.0
364135712023Combination therapy with chitosan/siRNA nanoplexes targeting PDGF-D and PDGFR-β reveals anticancer effect in breast cancer.1
364224702023Platelet-Derived Growth Factor B Is a Key Element in the Pathological Bone Formation of Ankylosing Spondylitis.4
367880912023High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.0

Citation

José Luis Vizmanos

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

Atlas Genet Cytogenet Oncol Haematol. 2005-07-01

Online version: http://atlasgeneticsoncology.org/gene/21/haematological-explorer/deep-insight-explorer/img/logo-atlas-4.svg