EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)

2014-11-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
CACH,CLE,EIF-2B,EIF2Bepsilon,LVWM
FUSION GENES

Other Information

Locus ID:

NCBI: 8893
MIM: 603945
HGNC: 3261
Ensembl: ENSG00000145191

Variants:

dbSNP: 8893
ClinVar: 8893
TCGA: ENSG00000145191
COSMIC: EIF2B5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145191ENST00000432569C9JRD9
ENSG00000145191ENST00000432982H7C2X0
ENSG00000145191ENST00000471832A0A3B3IT53
ENSG00000145191ENST00000492773A0A3B3ITK8
ENSG00000145191ENST00000647636A0A3B3ISM8
ENSG00000145191ENST00000647909A0A3B3IUB1
ENSG00000145191ENST00000648145A0A3B3ISV1
ENSG00000145191ENST00000648189A0A3B3ISI2
ENSG00000145191ENST00000648256A0A3B3ISS1
ENSG00000145191ENST00000648314A0A3B3IRP4
ENSG00000145191ENST00000648599A0A3B3IS56
ENSG00000145191ENST00000648630A0A3B3ITQ2
ENSG00000145191ENST00000648682A0A3B3IUF2
ENSG00000145191ENST00000648882A0A3B3IT53
ENSG00000145191ENST00000648890A0A3B3ISX3
ENSG00000145191ENST00000648915Q13144
ENSG00000145191ENST00000649545A0A3B3IST9
ENSG00000145191ENST00000649688A0A3B3IS56
ENSG00000145191ENST00000650244A0A3B3ISA5
ENSG00000145191ENST00000650270A0A3B3ITG6

Expression (GTEx)

0
10
20
30
40
50
60
70
80

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
149932752004Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.44
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
157230742005EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.35
127078592003Ovarian failure related to eukaryotic initiation factor 2B mutations.34
123250822002Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.26
185658372008Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men.25
289612362017Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation.15
182637582008Genetic and clinical heterogeneity in eIF2B-related disorder.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62776/eif2b5