PDGFRB
GeneName
PDGFRB
Summary
PDGFRB, also known as PDGFR, PDGFR beta, or platelet derived growth factor receptor beta, is a 124 kDa transmembrane receptor that is primarily expressed in vascular smooth muscle cells, fibroblasts, and various other cell types. It is localised to the plasma membrane and is involved in several critical biological processes, including angiogenesis, cell migration, and tissue repair. PDGFRB functions as a receptor for platelet-derived growth factor (PDGF), activating intracellular signalling pathways that regulate cell proliferation, migration, and differentiation. Its activity is mediated through protein tyrosine kinase activity, leading to downstream effects such as the positive regulation of calcium ion import and the activation of the MAP kinase pathway. PDGFRB is also implicated in various cellular processes such as aorta morphogenesis and cardiac myofibril assembly.
Importance
PDGFRB is relevant to: - Angiogenesis and tissue repair, making it a target for therapies aimed at promoting wound healing and tissue regeneration - Cancer research, as its signalling pathways can influence tumour growth and metastasis - Cardiovascular diseases, given its role in vascular smooth muscle cell proliferation and migration - Developmental biology, particularly in processes like aorta morphogenesis and kidney development through its involvement in mesangial cell proliferation and glomerular capillary formation
Top Products
For researchers investigating PDGFRB, we recommend two excellent primary antibodies. The first is the well-cited Anti-PDGFR beta antibody [42G12] (ab69506), which has garnered 66 citations, underscoring its reliability in the field. This monoclonal antibody is validated for use in immunohistochemistry (IHC), western blotting (WB), flow cytometry (FC), and ELISA, making it a versatile choice for various experimental needs. Importantly, it has also been validated in knockout models, ensuring its effectiveness in specific applications.Additionally, we offer the recombinant antibody, Anti-PDGFR beta antibody [EPR26830-84] (ab313777). This product is validated for IHC and WB, providing researchers with the batch-to-batch consistency that recombinant antibodies are known for. With its KO validation, this antibody is an excellent option for those requiring dependable PDGFRB detection in their studies. The Human PDGFRB ELISA Kit (ab252357) is an excellent option for researchers looking to measure PDGFRB levels in their samples.
Abcam Product Citation Summary
The data indicates that PDGFRB is being studied in various contexts, particularly in human pituitary adenoma and astrocyte cultures. The use of immunohistochemistry and Western blotting suggests a focus on protein expression and localisation in these biological systems.
Abcam Product Citation Table
Function
Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.
Involvement in disease
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).
Myeloproliferative disorder chronic with eosinophilia
MPE
A hematologic disorder characterized by malignant eosinophils proliferation.
None
The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB (PubMed:21938754).
Leukemia, acute myelogenous
AML
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
None
The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with TRIP11 (PubMed:9373237).
Leukemia, juvenile myelomonocytic
JMML
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
None
The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2) with SPECC1 (PubMed:15087372).
Basal ganglia calcification, idiopathic, 4
IBGC4
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.
None
The disease is caused by variants affecting the gene represented in this entry.
Myofibromatosis, infantile 1
IMF1
A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.
None
The disease is caused by variants affecting the gene represented in this entry.
Kosaki overgrowth syndrome
KOGS
A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Premature aging syndrome, Penttinen type
PENTT
An autosomal dominant syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis.
None
The disease is caused by variants affecting the gene represented in this entry.
Ocular pterygium-digital keloid dysplasia syndrome
OPDKD
An autosomal dominant disorder that presents in childhood with aggressive ingrowth of vascularized connective tissue on the cornea, ultimately leading to loss of vision. Later, affected individuals develop keloids on digits after minor trauma, but are otherwise healthy.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated by PTPN2 at Tyr-579 and Tyr-1021.
N-glycosylated.
Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation.
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasmic vesicle
- Lysosome lumen
- After ligand binding, the autophosphorylated receptor is ubiquitinated and internalized, leading to its degradation.
Alternative names
CD140b, PDGFR, PDGFR1, PDGFRB, Platelet-derived growth factor receptor beta, PDGF-R-beta, PDGFR-beta, Beta platelet-derived growth factor receptor, Beta-type platelet-derived growth factor receptor, CD140 antigen-like family member B, Platelet-derived growth factor receptor 1, PDGFR-1
Database links
swissprot:P09619 omim:173410 entrezGene:5159
Other research areas
- Immunology & Infectious Disease