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FLASH GENE

Symbol

EIF2B4

contributors: mct - updated : 15-05-2015

HGNC name	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
HGNC id	3260

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	VWM4 leukoencephalopathy with vanishing white matter, type 4
Location	2p23.3      Physical location : 27.587.220 - 27.593.324
Synonym name	translation initiation factor eIF-2b delta subunit
	eIF-2B GDP-GTP exchange factor subunit delta
Synonym symbol(s)	EIF2B, EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2BD

DNA

TYPE	functioning gene
STRUCTURE	6.11 kb     13 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_015636 13 splicing 1660 NP_056451 57.5 522 adrenal gland, lung 2006 16289705 also called variant 3 or short isoform NM_172195 12 splicing 1719 NP_751945 - 543 - 2006 16289705 also called variant 1 or long isoform NM_001034116 13 - 1763 NP_001029288 - 523 - 2006 16289705 also called variant 2

EXPRESSION

Type	ubiquitous

constitutive of

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 adrenal gland         Reproductive male system prostate     highly Respiratory lung         Visual eye       highly

tissue

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

cell lineage
cell lines
fluid/secretion	lymph highly

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Eif2b
	homolog to rattus Eif2b

Homologene

FAMILY

EIF-2B alpha/beta/delta subunits family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus

basic FUNCTION

catalyzing the exchange of eukaryotic initiation factor 2-bound GDP for GTP

CELLULAR PROCESS	protein, translation/synthesis
	protein, translation regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex of five different subunits, alpha, beta, gamma, delta and epsilon

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein

EIF4G2 associates with EIF2B4 and EIF4A1 to stimulate Internal Ribosome Entry Sites (IRES)-dependent translation of cellular mRNAs

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VWM4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS