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FLASH GENE

Symbol

EIF2B2

contributors: mlc - updated : 19-12-2007

HGNC name	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
HGNC id	3258

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	VWM2 leukoencephalopathy with vanishing white matter, type 2
Location	14q24.3      Physical location : 75.469.611 - 75.476.293
Synonym symbol(s)	EIF2B, EIF-2Bbeta

DNA

TYPE	functioning gene
STRUCTURE	6.00 kb     8 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 variant 1 8 - 1539 - 351 - Labauge (2007)

EXPRESSION

Type

widely

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 Digestive stomach       highly Endocrine parathyroid       highly Lymphoid/Immune tonsils       highly Nervous brain         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Eif2b2
	homolog to chimpanzee eif2b2
	homolog to rattus eif2b2
	homolog to chicken eif2b2

Homologene

FAMILY

EIF2B alpha/beta/delta subunits family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

basic FUNCTION

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

CELLULAR PROCESS

protein, translation/synthesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

eukaryotic initiation factor-2B (EIF2B) is a GTP exchange factor essential for protein synthesis

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VWM2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS