• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. PDGFRB

PDGFRB (Platelet derived growth factor receptor beta)

Loading...

The Function of PDGFRB

Tyrosine-protein kinase that acts as 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.

0 users want this gene increased, 0 users want it decreased

Protein names

Recommended name:

Platelet-derived growth factor receptor beta

Short name:

PDGFR-1

Alternative name(s):

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
CD antigen CD140b

PDGFRB SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS17708574 (PDGFRB) ??

Top Gene-Substance Interactions

PDGFRB Interacts with These Diseases

Disease Score

Substances That Increase PDGFRB

Substances Interaction Organism Category

Substances That Decrease PDGFRB

Substances Interaction Organism Category

Advanced Summary

     familial idiopathic basal ganglia calcification At least two mutations in the PDGFRB gene have been found to cause familial idiopathic basal ganglia calcification (FIBGC). This condition is characterized by abnormal deposits of calcium (calcification) in the brain, which can lead to movement and psychiatric problems. These mutations change single protein building blocks (amino acids) in the PDGFRβ protein. It is unclear how PDGFRB gene mutations cause FIBGC. Mutations may alter signaling within cells that line blood vessels in the brain, causing them to take in excess calcium, and leading to calcification of the lining of these blood vessels. Alternatively, changes in the PDGFRβ protein can alter phosphate transport signaling pathways, causing an increase in phosphate levels. In the brain, the excess phosphate combines with calcium and forms deposits. The PDGFRB gene is active (expressed) throughout the body; it is unclear why the effects of these mutations are limited to the basal ganglia and other brain regions that are involved in FIBGC. PDGFRB-associated chronic eosinophilic leukemia Genetic rearrangements (translocations) involving the PDGFRB gene cause a type of cancer of blood-forming cells called PDGFRB-associated chronic eosinophilic leukemia. This condition is characterized by an increased number of eosinophils, a type of white blood cell. The most common of these translocations brings together part of the PDGFRB gene with another gene called ETV6, whose function is to turn off gene activity. Together, these pieces create the ETV6-PDGFRB fusion gene. Occasionally, genes other than ETV6 are fused with the PDGFRB gene. The translocations that lead to these fusion genes are somatic mutations, which are acquired during a person's lifetime and occur initially in a single cell. This cell continues to grow and divide, producing a group of cells with the same mutation (a clonal population). The protein produced from the ETV6-PDGFRB fusion gene (as well as other PDGFRB fusion genes) functions differently than the proteins normally produced from the individual genes. The ETV6/PDGFRβ fusion protein does not require ligand binding to be activated and cannot bind to DNA to turn off gene activity. As a result, signaling pathways are constantly turned on (constitutively activated) and gene activity is increased, which increases the proliferation and survival of cells. When the ETV6-PDGFRB fusion gene mutation occurs in cells that develop into blood cells, the growth of eosinophils (and occasionally other white blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRB-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.

     The PDGFRB gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRβ), which is part of a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The PDGFRβ protein is found in the cell membrane of certain cell types, where a protein called platelet-derived growth factor attaches (binds) to it. This binding turns on (activates) the PDGFRβ protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. This process, called phosphorylation, leads to the activation of a series of proteins in multiple signaling pathways. The signaling pathways stimulated by the PDGFRβ protein control many important processes in the cell such as growth and division (proliferation), movement, and survival. PDGFRβ protein signaling is important for the development of many types of cells throughout the body.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • CUTL1
  • AP-1
  • Max
  • c-Jun
  • c-Myc
  • Tal-1beta
  • AML1a
  • GATA-3
  • p300

Gene Pathways:

  • Disease
  • Immune System
  • MAPK signaling pathway
  • Melanoma
  • Pathways in cancer
  • Regulation of actin cytoskeleton
  • Signal Transduction
  • Calcium signaling pathway
  • Cytokine-cytokine receptor interaction
  • Prostate cancer
  • Glioma

Enzyme Regulation:

Present in an inactive conformation in the absence of bound ligand. Binding of PDGFB and/or PDGFD leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib.

Molecular Function:

  • Atp Binding
  • Enzyme Binding
  • Phosphatidylinositol-4,5-Bisphosphate 3-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 Binding
  • Platelet-Derived Growth Factor Receptor Binding
  • Protein Kinase Binding
  • Protein Tyrosine Kinase Activity
  • Ras Guanyl-Nucleotide Exchange Factor Activity
  • Receptor Binding
  • Vascular Endothelial Growth Factor Binding

Biological Processes:

  • Aorta Morphogenesis
  • Cardiac Myofibril Assembly
  • Cell Chemotaxis
  • Cell Migration Involved In Coronary Angiogenesis
  • Cell Migration Involved In Vasculogenesis
  • Glycosaminoglycan Biosynthetic Process
  • Inner Ear Development
  • Mapk Cascade
  • Metanephric Comma-Shaped Body Morphogenesis
  • Metanephric Glomerular Capillary Formation
  • Metanephric Glomerular Mesangial Cell Proliferation Involved In Metanephros Development
  • Metanephric Mesenchymal Cell Migration
  • Metanephric Mesenchyme Development
  • Metanephric S-Shaped Body Morphogenesis
  • Negative Regulation Of Apoptotic Process
  • Peptidyl-Tyrosine Phosphorylation
  • Phosphatidylinositol-Mediated Signaling
  • Phosphatidylinositol Metabolic Process
  • Platelet-Derived Growth Factor Receptor-Beta Signaling Pathway
  • Platelet-Derived Growth Factor Receptor Signaling Pathway
  • Positive Regulation Of Apoptotic Process
  • Positive Regulation Of Calcium Ion Import
  • Positive Regulation Of Cell Migration
  • Positive Regulation Of Cell Proliferation
  • Positive Regulation Of Cell Proliferation By Vegf-Activated Platelet Derived Growth Factor Receptor Signaling Pathway
  • Positive Regulation Of Chemotaxis
  • Positive Regulation Of Collagen Biosynthetic Process
  • Positive Regulation Of Dna Biosynthetic Process
  • Positive Regulation Of Erk1 And Erk2 Cascade
  • Positive Regulation Of Fibroblast Proliferation
  • Positive Regulation Of Hepatic Stellate Cell Activation
  • Positive Regulation Of Map Kinase Activity
  • Positive Regulation Of Metanephric Mesenchymal Cell Migration By Platelet-Derived Growth Factor Receptor-Beta Signaling Pathway
  • Positive Regulation Of Mitotic Nuclear Division
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Activity
  • Positive Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Positive Regulation Of Phospholipase C Activity
  • Positive Regulation Of Phosphoprotein Phosphatase Activity
  • Positive Regulation Of Reactive Oxygen Species Metabolic Process
  • Positive Regulation Of Rho Protein Signal Transduction
  • Positive Regulation Of Smooth Muscle Cell Migration
  • Positive Regulation Of Smooth Muscle Cell Proliferation
  • Protein Autophosphorylation
  • Regulation Of Actin Cytoskeleton Organization
  • Regulation Of Phosphatidylinositol 3-Kinase Signaling
  • Response To Estradiol
  • Response To Estrogen
  • Response To Fluid Shear Stress
  • Response To Hydrogen Peroxide
  • Response To Hyperoxia
  • Response To Retinoic Acid
  • Response To Toxic Substance
  • Retina Vasculature Development In Camera-Type Eye
  • Signal Transduction
  • Smooth Muscle Cell Chemotaxis
  • Wound Healing

Drug Bank:

  • Becaplermin
  • Imatinib
  • Regorafenib
  • Sorafenib
  • Sunitinib
  • Dasatinib
  • Pazopanib
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_14538| Anapl_09330| AS27_12015| AS28_08141| beta platelet-derived growth factor receptor| Beta-type platelet-derived growth factor receptor| CB1_000163034| CD140 antigen-like family member B| CD140b| D623_10034748| H920_06574| I79_013660| IBGC4| IMF1| JTK12| KOGS| M91_17980| M959_08431| MDA_GLEAN10025666| N300_10590| N301_12177| N302_05239| N303_03213| N305_02871| N306_11962| N307_10123| N308_14881| N309_08873| N310_00567| N311_08148| N312_05880| N320_05946| N321_02517| N322_05112| N324_05557| N325_05015| N326_10381| N327_04637| N328_02987| N329_12517| N330_03168| N331_03122| N332_00934| N333_13057| N334_04470| N335_04511| N336_11647| N339_03569| N340_00791| N341_10438| PAL_GLEAN10018752| PANDA_006596| PDGF-beta| PDGF beta chain| Pdgfr| pdgfr1| PDGFR-1| pdgfrb2| pdgfrba| PDGFRbeta| PDGF-R-beta| PDGFR-beta| PENTT| PGF-Rb| platelet-derived growth factor receptor 1| platelet-derived growth factor receptor beta| Platelet-derived growth factor receptor, beta| platelet-derived growth factor receptor beta 2| platelet-derived growth factor receptor beta a| platelet derived growth factor receptor, beta polypeptide| platelet-derived growth factor receptor, beta polypeptide| platelet-derived growth factor receptor beta variant 1| protein tyrosin kinase| TREES_T100010698| UY3_18240| Y1Q_019421| Y956_02342| Z169_06186| pdgfrb

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved