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
346634872022Leukodystrophy Due to eIF2B Mutations in Adults.1
346634872022Leukodystrophy Due to eIF2B Mutations in Adults.1
256000652015Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.3
257790442015DAP5 associates with eIF2β and eIF4AI to promote Internal Ribosome Entry Site driven translation.55
256000652015Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.3
257790442015DAP5 associates with eIF2β and eIF4AI to promote Internal Ribosome Entry Site driven translation.55
227372092012Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.8
227372092012Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.8
215037152011[Vanishing white matter disease: a stress-related leukodystrophy].1
215601892011Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.35
215037152011[Vanishing white matter disease: a stress-related leukodystrophy].1
215601892011Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.35
205322022010Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.42
207097512010Regulation of the unfolded protein response by eif2Bdelta isoforms.10
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.57

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