EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)

2010-12-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
EIF-2B,EIF2B,EIF2Bdelta
FUSION GENES

Other Information

Locus ID:

NCBI: 8890
MIM: 606687
HGNC: 3260
Ensembl: ENSG00000115211

Variants:

dbSNP: 8890
ClinVar: 8890
TCGA: ENSG00000115211
COSMIC: EIF2B4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115211ENST00000347454Q9UI10
ENSG00000115211ENST00000405940F8W8L6
ENSG00000115211ENST00000417567H7C2L8
ENSG00000115211ENST00000418146F8WEV6
ENSG00000115211ENST00000445933Q9UI10
ENSG00000115211ENST00000451130Q9UI10
ENSG00000115211ENST00000493344E7ERK9
ENSG00000115211ENST00000616081A0A087WTA5
ENSG00000115211ENST00000622434A0A087WW69

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
Eukaryotic Translation InitiationREACTOMER-HSA-72613
Cap-dependent Translation InitiationREACTOMER-HSA-72737
Recycling of eIF2:GDPREACTOMER-HSA-72731
Gene ExpressionREACTOMER-HSA-74160

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
127078592003Ovarian failure related to eukaryotic initiation factor 2B mutations.34
205322022010Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.34
257790442015DAP5 associates with eIF2β and eIF4AI to promote Internal Ribosome Entry Site driven translation.27
215601892011Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.24
181607162008A novel mechanism for the control of translation initiation by amino acids, mediated by phosphorylation of eukaryotic initiation factor 2B.21
200168182009Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.21
182637582008Genetic and clinical heterogeneity in eIF2B-related disorder.13
207097512010Regulation of the unfolded protein response by eif2Bdelta isoforms.9
227372092012Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.6

Citation

Dessen P

EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51837/eif2b4