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FLASH GENE

Symbol

EIF2B3

contributors: - updated : 16-12-2006

HGNC name	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
HGNC id	3259

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	VWM5 leukoencephalopathy with vanishing white matter, type 5
Location	1p34.1      Physical location : 45.316.193 - 45.452.361
Synonym symbol(s)	EIF-2B, EIF2Bgamma

DNA

TYPE	functioning gene
STRUCTURE	135.00 kb     12 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

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 Digestive intestine large intestine colon   highly Nervous brain         Reproductive female system breast mammary gland     Respiratory respiratory tract larynx     highly Skeleton axial skull face mandible   Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal     respiratory lung alveolar epithelium macrophages

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus eif2b3
	ortholog to murine Eif2b3
	homolog to chimpanzee eif2b3
	homolog to chicken eif2b3

Homologene

FAMILY

EIF-2B gamma/epsilon subunits family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

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

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

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

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VWM5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         Parkinson disease

Susceptibility

Variant & Polymorphism SNP	influencing age at onset in Parkinson disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS