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FLASH GENE

Symbol

PEG3

contributors: mct/pgu - updated : 18-03-2010

HGNC name	paternally expressed 3
HGNC id	8826

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.43      Physical location : 57.321.444 - 57.352.094
Synonym name	putative imprinted ZNF
	zinc finger and SCAN domain-containing protein 24
	human homolog of a mouse imprinted gene, Peg3
	Kruppel-type zinc finger protein
	maternally imprinted
Synonym symbol(s)	KIAA0287, PW1, ZSCAN24, DKFZp781A095

DNA

TYPE	anonymous DNA segment
SPECIAL FEATURE
text	sharing identical 5' and composed of seven small exons with ZIM2
STRUCTURE	28.27 kb     10 Exon(s)

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	the region surrounding the first exon of PEG3 contains a differentially methylated CpG island

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - PRKCG - ZIM2 - PEG3 - (ZNF134 - ZNF132 - MZF1 ),USP29 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001146185 - - 8375 NP_001139657 - 1462 - 2002 11679586 using an alternate in-frame downstream start codon as compared to variant 1 isoform 2 NM_001146184 - - 8689 NP_001139656 - 1588 - 2002 11679586 missing a 5' non coding exon as compared to variant 1 isoform 1 NM_006210 10 - 8765 NP_006201 - 1588 - 2002 11679586 isoform 1 NM_001146186 - - 8722 NP_001139658 - 1588 - 2002 11679586 differs in the 5'UTR as compared to variant 1 isoform 1 NM_001146187 - - 8381 NP_001139659 - 1464 - 2002 11679586 using an alternate in-frame downstream start codon as compared to variant 1 isoform 3 with a shorter N terminus and two additional internal aa as compared to isoform 1

EXPRESSION

Type

widely

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       highly Endocrine adrenal gland       highly   neuroendocrine pituitary     highly   placenta         Nervous brain diencephalon hypothalamus     Reproductive female system ovary     predominantly   male system testis     predominantly Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Nervous glia

cell lineage
cell lines	highly repressed in glioma cell lines
fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, mesodermal tissues (branchial arches, somites)

IMPRINTING	maternally
text	in placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	12 C2H2-type zinc fingers
	two novel proline-rich motifs
	leucine-rich repeats

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

Krüppel C2H2-type zinc finger protein family

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	contributing to glioma carcinogenesis
	involved in the TP53-mediated cell death pathway as a downstream effector of TP53 in brain ischemia/hypoxia
	inhibits Wnt signaling and regulates glioma growth
	inducing apoptosis in ccoperation with SIAH1A
	acting as a mediator between TP53 and BAX in a neuronal death pathway that is activated by DNA damage
	acting synergistically with TRAF2 and inhibits TNF-induced apoptosis through activation of NF-KappaB
	possesses a tumor suppressor activity in glioma cells
	serves as an invaluable marker for competent self-renewing stem cells in a wide array of adult tissues
	PEG3/reporter activity identifies stem/progenitor cells of the adult CNS and can be used to track a self-renewing population

CELLULAR PROCESS	cell life, cell death/apoptosis
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SIAH1A and SIAH2
	interacting with TRAF2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in glioma (by aberrant DNA methylation of an exonic CpG island)

Susceptibility

for cancer as well as neurobehavioral deficits

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS