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
376742832023A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.0
376742832023A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.0
357103112022CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.4
357103112022CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.4
320003732020Low EIF2B5 expression predicts poor prognosis in ovarian cancer.2
322935532020Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.3
326652732020eIF2B as a Target for Viral Evasion of PKR-Mediated Translation Inhibition.16
333008692020Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.11
320003732020Low EIF2B5 expression predicts poor prognosis in ovarian cancer.2
322935532020Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.3
326652732020eIF2B as a Target for Viral Evasion of PKR-Mediated Translation Inhibition.16
333008692020Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.11
289612362017Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation.34
289612362017Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation.34
254570852015A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.2

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-(eukaryotic-translation-initiation-factor-2b-subunit-epsilon)