PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
2005-07-01 José Luis Vizmanos AffiliationDepartamento de Genética, Facultad de Ciencias, Universidad de Navarra, 31008 Pamplona, Navarra, Espana
Identity
HGNC
LOCATION
5q32
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
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
ALIAS
CD140B,IBGC4,IMF1,JTK12,KOGS,PDGFR,PDGFR-1,PDGFR1,PENTT
FUSION GENES
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.
Proteins
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
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
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
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
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
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
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
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
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
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
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
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9373237 | 1997 | Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. | Abe A et al |
| 12181402 | 2002 | Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. | Apperley JF et al |
| 12542482 | 2003 | Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders. | Baxter EJ et al |
| 14504072 | 2003 | Imatinib mesylate elicits positive clinical response in atypical chronic myeloid leukemia involving the platelet-derived growth factor receptor beta. | Garcia JL et al |
| 8168137 | 1994 | Fusion 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 |
| 15492236 | 2004 | 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 et al |
| 12681968 | 2003 | Sensitivity to imatinib but low frequency of the TEL/PDGFRbeta fusion protein in chronic myelomonocytic leukemia. | Gunby RH et al |
| 15583853 | 2004 | Oncogenic derivatives of platelet-derived growth factor receptors. | Jones AV et al |
| 10910073 | 2000 | 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 et al |
| 15496975 | 2005 | KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). | Levine RL et al |
| 11588050 | 2001 | Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. | Magnusson MK et al |
| 15087372 | 2004 | HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). | Morerio C et al |
| 9616134 | 1998 | 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 et al |
| 11389034 | 2001 | 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 et al |
| 11919393 | 2002 | Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta. | Steer EJ et al |
| 15087377 | 2004 | 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 et al |
| 12907457 | 2003 | Cloning 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113721 | ENST00000261799 | P09619 |
| ENSG00000113721 | ENST00000517488 | E5RJ14 |
| ENSG00000113721 | ENST00000517957 | E5RII0 |
| ENSG00000113721 | ENST00000520579 | E5RH16 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10804 | imatinib | Chemical | LabelAnnotation | associated | |||
| PA162372840 | sunitinib | Chemical | MultilinkAnnotation | associated | 12538485, 19248971 | ||
| PA29444 | HRAS | Gene | Pathway | associated | 28362716 | ||
| PA30196 | KRAS | Gene | Pathway | associated | 28362716 | ||
| PA31768 | NRAS | Gene | Pathway | associated | 28362716 | ||
| PA7000 | sorafenib | Chemical | Pathway | associated | 28362716 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37307823 | 2024 | Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network. | 6 |
| 37899509 | 2024 | Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma. | 0 |
| 37941480 | 2024 | Targeting hyperactive platelet-derived growth factor receptor-β signaling in T-cell acute lymphoblastic leukemia and lymphoma. | 0 |
| 38323741 | 2024 | The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL. | 0 |
| 38644399 | 2024 | Targeting deubiquitinase OTUB1 protects vascular smooth muscle cells in atherosclerosis by modulating PDGFRβ. | 0 |
| 38741091 | 2024 | Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm. | 0 |
| 37307823 | 2024 | Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network. | 6 |
| 37899509 | 2024 | Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma. | 0 |
| 37941480 | 2024 | Targeting hyperactive platelet-derived growth factor receptor-β signaling in T-cell acute lymphoblastic leukemia and lymphoma. | 0 |
| 38323741 | 2024 | The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL. | 0 |
| 38644399 | 2024 | Targeting deubiquitinase OTUB1 protects vascular smooth muscle cells in atherosclerosis by modulating PDGFRβ. | 0 |
| 38741091 | 2024 | Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm. | 0 |
| 36413571 | 2023 | Combination therapy with chitosan/siRNA nanoplexes targeting PDGF-D and PDGFR-β reveals anticancer effect in breast cancer. | 1 |
| 36422470 | 2023 | Platelet-Derived Growth Factor B Is a Key Element in the Pathological Bone Formation of Ankylosing Spondylitis. | 4 |
| 36788091 | 2023 | High-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/pdgfrb-(platelet-derived-growth-factor-receptor-beta-polypeptide)
