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FLASH GENE

Symbol

EIF2S3

contributors: npt/mct - updated : 13-11-2014

HGNC name	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
HGNC id	3267

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MEHMO mental retardation, epileptic seizures hypertonia, hypogonadism and hypogenitalism, microcephaly and obesity
Location	Xp22.11      Physical location : 24.073.064 - 24.096.925
Synonym name	eukaryotic translation initiation factor 2G
	GTP-binding gamma-subunit
Synonym symbol(s)	EIF2, EIF2G, EIF2GAMMA, EIF2S3X

DNA

TYPE	anonymous DNA segment
SPECIAL FEATURE	escaping inactivation
text	escaping X-inactivation
STRUCTURE	23.86 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001415 12 - 3486 NP_001406 51 472 - 2005 16288713

EXPRESSION

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 Lymphoid/Immune thymus       highly Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY	GTP-binding elongation factor family
	EIF2G subfamily

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

regulates the rate of protein translation, and escapes X-inactivation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	CDC123 is critical for EIF2S1, EIF2S2, EIF2S3 activity, and CDC123 is a specific EIF2 assembly factor indispensable for the onset of protein synthesis
	importance of EIF5 GDI (GDP-dissociation inhibitor) activity, and EIF2S2 acts in concert with EIF5 to prevent premature release of GDP from EIF2S3 and thereby ensure tight control of protein synthesis initiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MEHMO

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS