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FLASH GENE

Symbol

PDGFRB

contributors: mct/pgu - updated : 15-07-2016

HGNC name	platelet-derived growth factor receptor, beta polypeptide
HGNC id	8804

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Rna function	mRNA for PDGFRB only in 25p100 of the oocytes
Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Homo sapiens Nervous brain       highly Homo sapiens Reproductive female system ovary     highly Respiratory respiratory tract larynx     highly Skin/Tegument skin         Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Connective interstitial dermis     Homo sapiens Fetal Muscular smooth vessel     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Nervous astrocyte Homo sapiens Nervous neuron Homo sapiens not specific fibroblast Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

growth/childhood

Text	PDGFRB levels were markedly reduced in islet beta-cells at 6 weeks and 6 months of age, compared to neonatal islets

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five extracellular Ig-like motifs
	a transmembrane segment (1TM)
	a cytoplasmic split tyrosine kinase domain

mono polymer

homomer , heteromer , dimer

HOMOLOGY

Homologene

FAMILY	protein kinase superfamily
	Tyr protein kinase family
	CSF-1/PDGF receptor subfamily

CATEGORY

signaling cytokine growth factor , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus

basic FUNCTION	receptor tyrosine kinase, class III, phosphorylating Tyr residues at the C-terminus of PTPN11 creating a binding site for the SH2 domain of GRB2
	mitogen for mesenchyme-derived cells, including fibroblasts and smooth muscle
	phosphorylates GRK2 tyrosyl residues and thereby activates GRK2, which then serine-phosphorylates and desensitizes the PDGFRbeta
	PDGFRB signaling is crucial for neuroprotection, endogenous tissue repair, and functional recovery after stroke by targeting neurons,pericyte/vascular smooth muscle cells, and astrocytes
	required for the development of mesenchymal cell types, and plays a diverse role in the function of fibroblasts in tissue homeostasis and regeneration
	PDGFRB-mediated signaling plays a key role in morphine tolerance
	has an essential role in vascular progenitor cell signaling (pMID: 31031011)

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

PDGFRB-AKT1 signaling in brain pericytes may play various important roles leading to neuroprotection after ischemic stroke

a component

homodimerizing and heterodimerizing with PDGFRA

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	binds specifically to PDGFRA and has a tyrosine-protein kinase activity
	interacting with NRP1 (influences ligand-induced PDGFRB homodimer signalling)
	important interactive relationship between SLC6A4 and the PDGFRB in the production of pulmonary artery smooth muscle cell proliferation triggered by PDGF that may be important in pulmonary hypertension (PH)
	LRP6 forms a complex with PDGFRB and promotes its degradation
	SH2B3 is a negative regulator of PDGFR signaling
	in aortic smooth muscle cells, TGM2 specifically amplifies the activation of PDGFRB and its multiple downstream signaling targets in response to PDGF-BB
	ETV6-PDGFRB antagonizes the effects of ETV6 and IRF8 on PTPN13 transcription
	PDGFRB/MAPK1 signalling pathway triggered by FGF2 plays an important role in the proliferation and migration of endothelial progenitor cells
	involved in angiogenesis and in the regulation of inorganic phosphate (Pi) transport in vascular smooth
	muscle cells via SLC20A1
	PDGFRB expression was upregulated by NOTCH3 ligand induction or by activated forms of the NOTCH3 receptor
	affects the intracellular sorting of activated PDGFRB and the migration, proliferation and tumorigenicity of cells stimulated by PDGF

cell & other

REGULATION

activated by

constitutively activated through amino-acid(s) substitution in a WW-like domain (phosphoserine- or phosphothreonine binding)

repressed by

ZNF24

Other	phosphorylated by PTPN11 controlling Ras GAP recruitement and Ras MAP kinase signaling in the heterodimeric configuration of PDGF receptors
	ligand-mediated stabilization of specific G-quadruplex structures in the promoter can modulate its transcription

ASSOCIATED DISORDERS

corresponding disease(s)

IMF1 , BGCI4 , PENTT , POGS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in clear cell renal carcinoma with favourable outcome tumoral fusion translocation   protein chimeric t(5;12)(q33;p13) in myelodysplasia, myeloproliferative disorders (MPS), chronic myelocytic leukemia (CMLL), with fusion 5' - ETV66 - PDGFRB - 3' constitutional germinal mutation       gain of function mutation in the activation loop deregulates its kinase activity tumoral fusion translocation     somatic traslocations in various hematological disorders resulting in PDGFRB/D10S170 fusion gene, PDGFRB/RABPT5 fusion gene, PDGFRB/HIP1 fusion gene and other partners genes tumoral fusion       with MYO18A in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2) tumoral fusion       to SPTBN1 in imatinib-responsive atypical myeloproliferative disorders constitutional somatic mutation       in intracerebral fusiform aneurysms

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

PDGFRB inhibition selectively eliminates morphine tolerance in rats