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FLASH GENE

Symbol

PDGFB

contributors: mct/ - updated : 05-11-2017

HGNC name	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
HGNC id	8800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BGCI5 idiopathic basal ganglia calcification-5 DFSP dermatofibrosarcoma protuberans (Darier-Ferrand-tumor)
Location	22q13.1      Physical location : 39.619.686 - 39.640.957
Synonym name	oncogene SIS
	becaplermin
	platelet-derived growth factor 2
	platelet-derived growth factor, B chain
	v-sis platelet-derived growth factor beta polypeptide (simian sarcoma viral oncogene homolog)
Synonym symbol(s)	SIS, PDGF2, SSV, c-sis, IBGC5, PDGF-2

DNA

TYPE	virus associated
STRUCTURE	21.27 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D22S28 ,D22S29 - APOBEC3B - PDGFB - P1 - CYP2D@ - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002608 7 splicing 3393 NP_002599 27.28 241 - 2010 20083221 a 7 exons variant lacking exon 2 encoding for the longer isoform 1 NM_033016 7 splicing 2396 NP_148937 25.6 226 - 2010 20083221 a 7 exons variant lacking exon 1 encoding for the shorter isoform 2

EXPRESSION

Type	restricted

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 Cardiovascular heart       lowly   vessel       highly Digestive intestine large intestine colon   lowly   mouth       highly Nervous brain       moderately Reproductive female system placenta     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic       highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Reproductive granulosa cell Homo sapiens Reproductive oocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Pdgfb (87.97 pc)
	homolog to murine Pdgfb (89.63 pc)

Homologene

FAMILY

PDGF/VEGF growth factor family

CATEGORY

protooncogene , signaling cytokine growth factor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	potent mitogen for cells of mesenchymal origin, also involved in transformation process
	potent negative regulator of smooth muscle cell (SMC) differentiation
	might be involved in the activation of primordial follicles
	growth factor involved in the recruitment and function of pericytes
	PDGFB signaling in trophoblasts is a key component of the unique placental hematopoietic microenvironment that protects hematopoietic stem/progenitor cell (HSPC) from premature differentiation
	induces senescence and transformation in normal human fibroblasts, but has a limited ability to induce senescence
	mitogen for hepatic stellate cells (HSC)

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

cell to cell signaling

a component

homodimerizing or heterodimerizing with PDGFA,(PDGFBB or PDGFAB)

INTERACTION

DNA

RNA

small molecule

protein	PDGFRA, PDGFRB
	XLKD1
	PDGFB may regulate THBD expression in VSMCs during vascular remodelling
	SERPINA12 significantly inhibited PDGFB-induced smooth muscle cells (SMCs) migration
	PDGFB-induced activation of MAPK14 was significantly suppressed by SERPINA12
	SF1 antagonizes PDGFB-induced growth and dedifferentiation of vascular smooth muscle cells
	LAMTOR5 upregulates PDGFB via activating transcription factor Sp1 to promote proliferation of breast cancer cells
	angiogenesis is stimulated by KLK12 acting via a PDGFB-dependent paracrine pathway
	LHX2 promotes tumor growth and metastasis by inducing autocrine and paracrine PDGFB signaling
	NOTCH2 inhibits PDGFB-dependent proliferation and its expression is decreased by PDGFB

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFSP , BGCI5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation --other protein chimeric translocation t(17;22) (q22;q13) with chimeric proteins 5' - COL1A1 - PDGFB - 3' in meningiomas, in dermatofibrosarcoma protuberans constitutional     --low   in human venous malformations (VM) lesions constitutional       loss of function increases hepatic vascular permeability and enhances insulin sensitivity tumoral     --over   with LAMTOR5 were highly expressed in breast cancer cell lines

Susceptibility

meningiomas dermatofibrosarcoma protuberans

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   anti-platelet therapy or selective inhibition of PDGFB might reduce biliary fibrosis in patients with liver disease

ANIMAL & CELL MODELS

transgenic mice in which Pdgf-B was over-expressed, exhibited enhanced apoptosis in the developing corpus striatum, and in retinal progenitors results in abnormal retinal vessel formation