InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EIF2B4

Summary

InnateDB Protein

IDBP-38716.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EIF2B4

Protein Name

eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa

Synonyms

EIF-2B; EIF2B; EIF2Bdelta;

Species

Homo sapiens

Ensembl Protein

ENSP00000233552

InnateDB Gene

IDBG-38714 (EIF2B4)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Disease Associations

Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269PubMed:11835386, ECO:0000269PubMed:12707859, ECO:0000269PubMed:15776425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	11 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003743	translation initiation factor activity
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005515	protein binding
GO:0031369	translation initiation factor binding

Biological Process

GO:0001541	ovarian follicle development
GO:0006412	translation
GO:0006413	translational initiation
GO:0006417	regulation of translation
GO:0006446	regulation of translational initiation
GO:0009408	response to heat
GO:0009749	response to glucose
GO:0010467	gene expression
GO:0014003	oligodendrocyte development
GO:0032057	negative regulation of translational initiation in response to stress
GO:0042552	myelination
GO:0043434	response to peptide hormone
GO:0043547	positive regulation of GTPase activity
GO:0044237	cellular metabolic process
GO:0044267	cellular protein metabolic process
GO:0045947	negative regulation of translational initiation
GO:0051716	cellular response to stimulus