HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
Chromosome 3 Β· 3q27.1
NCBI Gene: 8893Ensembl: ENSG00000145191.15HGNC: HGNC:3261UniProt: A0A3B3ISX3
126PubMed Papers
21Diseases
0Drugs
117Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
T cell receptor signaling pathwaycytosoleukaryotic translation initiation factor 2B complexprotein bindingCACH syndromeleukoencephalopathy with vanishing white matterleukoencephalopathy with vanishing white matter 1leukoencephalopathy with vanishing white matter 5
✦AI Summary

EIF2B5 encodes the epsilon subunit of the eukaryotic translation initiation factor 2B (eIF2B) complex, serving as a critical guanine nucleotide exchange factor 1. Its primary function is to catalyze GDP-GTP exchange on eIF2 gamma subunits, facilitating protein translation initiation 123. When eIF2 alpha is phosphorylated during cellular stress, EIF2B5 activity is repressed, suppressing global translation and limiting methionyl-initiator tRNA availability 13. EIF2B5 mutations cause leukoencephalopathy with vanishing white matter (VWM), a progressive hereditary white matter disorder characterized by ataxia, spasticity, and neurological degeneration 45. VWM presents with distinctive episodes of rapid deterioration triggered by infections, seizures, or trauma 5. Astrocytic dysfunction is central to VWM pathophysiology 5. EIF2B5 is the most frequently mutated gene among EIF2B family members 6. Preliminary evidence suggests potential overlap between EIF2B5 mutations and multiple sclerosis susceptibility, though this relationship remains contentious 7. Clinically, therapeutic approaches targeting EIF2B5 show promise: astrocyte-targeted AAV9-mediated EIF2B5 gene supplementation demonstrated safety and early efficacy in mouse models, with improvements in motor function, body weight, and demyelination attenuation 5. Adenine base editing approaches achieved partial integrated stress response recovery 8.

Sources cited
1
EIF2B5 catalyzes GDP-GTP exchange on eIF2 gamma and is repressed when eIF2 alpha is phosphorylated
PMID: 25858979
2
EIF2B5 acts as a guanine nucleotide exchange factor in the eIF2B complex
PMID: 27023709
3
EIF2B5 guanine nucleotide exchange factor activity and eIF2 alpha phosphorylation-mediated repression
PMID: 31048492
4
EIF2B5 mutations cause vanishing white matter disease with variable age of onset
PMID: 37674283
5
VWM presents with ataxia, spasticity, and rapid deterioration episodes; astrocyte-targeted AAV9-EIF2B5 shows safety and efficacy
PMID: 38549375
6
EIF2B5 is the most frequently mutated gene among EIF2B family members in genetic white matter disorders
PMID: 35012964
7
Contentious proposed association between EIF2B5 and multiple sclerosis susceptibility
PMID: 28093708
8
Adenine base editing of EIF2B5 variants achieved partial integrated stress response recovery in VWM mice
PMID: 38454603
Disease Associationsβ“˜21
CACH syndromeOpen Targets
0.84Strong
leukoencephalopathy with vanishing white matterOpen Targets
0.77Strong
leukoencephalopathy with vanishing white matter 1Open Targets
0.75Strong
leukoencephalopathy with vanishing white matter 5Open Targets
0.69Moderate
ovarioleukodystrophyOpen Targets
0.64Moderate
genetic disorderOpen Targets
0.47Moderate
congenital or early infantile CACH syndromeOpen Targets
0.37Weak
juvenile or adult CACH syndromeOpen Targets
0.37Weak
late infantile CACH syndromeOpen Targets
0.37Weak
leukodystrophyOpen Targets
0.35Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.34Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.34Weak
LeukoencephalopathyOpen Targets
0.12Weak
ovarian cancerOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Autosomal dominant intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease dominant intermediate BOpen Targets
0.05Suggestive
major depressive disorderOpen Targets
0.05Suggestive
Leukoencephalopathy with vanishing white matter 5UniProt
Pathogenic Variants117
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2026β†’ Residue 195
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)Pathogenic
Vanishing white matter disease|not provided|EIF2B5-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 136
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2026β†’ Residue 403
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2026β†’ Residue 305
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)Pathogenic
Vanishing white matter disease|not provided|See cases|Leukoencephalopathy with vanishing white matter 5|Inborn genetic diseases|EIF2B5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 113
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 339
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)Pathogenic
Vanishing white matter disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 339
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 1|Hereditary breast ovarian cancer syndrome|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2025β†’ Residue 269
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 5|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 605
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)Pathogenic
Vanishing white matter disease|Inborn genetic diseases|not provided|Leukoencephalopathy with vanishing white matter 1|Leukoencephalopathy with vanishing white matter 5|EIF2B5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2025β†’ Residue 649
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu)Pathogenic
Vanishing white matter disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 447
NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)Pathogenic
Vanishing white matter disease|not provided|Leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 315
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2025β†’ Residue 315
NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)Pathogenic
not provided|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)Pathogenic
not provided|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 339
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 5
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_003907.3(EIF2B5):c.1289T>C (p.Val430Ala)Pathogenic
not provided|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 430
NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)Pathogenic
not provided|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 305
View on ClinVar β†—
Related Genes
EIF2S2Protein interaction100%EIF2S3BProtein interaction92%ARIH1Protein interaction89%EIF2S1Protein interaction82%EIF2S3Protein interaction82%RABIFProtein interaction82%
Tissue Expression6 tissues
Liver
100%
Ovary
99%
Lung
97%
Bone Marrow
82%
Heart
79%
Brain
47%
Gene Interaction Network
Click a node to explore
EIF2B5EIF2S2EIF2S3BARIH1EIF2S1EIF2S3RABIF
PROTEIN STRUCTURE
Preparing viewer…
PDB3JUI Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.16Tolerant
Observed/Expected LoF0.42 [0.32–0.54]
RankingsWhere EIF2B5 stands among ~20K protein-coding genes
  • #3,717of 20,598
    Most Researched126 Β· top quartile
  • #665of 5,498
    Most Pathogenic Variants117 Β· top quartile
  • #3,453of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedEIF2B5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Multiple Sclerosis and EIF2B5: A Paradox or a Missing Link.
PMID: 28093708
Adv Exp Med Biol Β· 2017
1.00
2
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
PMID: 35012964
Neurology Β· 2022
0.90
3
The ovarioleukodystrophy.
PMID: 18678442
Clin Neurol Neurosurg Β· 2008
0.80
4
A novel missense variant in
PMID: 37674283
J Genet Β· 2023
0.70
5
LncRNA KCNQ1OT1 promotes the metastasis of ovarian cancer by increasing the methylation of EIF2B5 promoter.
PMID: 36100884
Mol Med Β· 2022
0.60