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.
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha
Chromosome 12 Β· 12q24.31
NCBI Gene: 1967Ensembl: ENSG00000111361.14HGNC: HGNC:3257UniProt: Q14232
110PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
eukaryotic translation initiation factor 2B complexplasma membranemembraneidentical protein bindingleukoencephalopathy with vanishing white matter 1leukoencephalopathy with vanishing white matterCACH syndromeovarioleukodystrophy
✦AI Summary

EIF2B1 encodes the alpha subunit of eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor that catalyzes GDP-GTP exchange on eIF2 gamma to facilitate translation initiation 123. When eIF2 alpha is phosphorylated during stress responses, eIF2B's exchange factor activity is repressed, limiting methionyl-initiator tRNA availability and suppressing global protein synthesis 13. This phosphorylation-mediated inhibition represents a central mechanism of the integrated stress response (ISR), which cells activate during conditions like infection, heat stress, and metabolic challenges 45. EIF2B1 mutations cause vanishing white matter (VWM), an autosomal recessive leukodystrophy characterized by progressive white matter degeneration, with disease severity inversely correlating with age of onset 67. VWM pathology results from constitutively reduced eIF2B activity, leading to dysregulated ISR activation predominantly in astrocytes and oligodendrocytes, with neurologic decline accelerated by stressors such as infections and head trauma 67. EIF2B1 was recently identified as a monogenic diabetes gene, with mutations causing neonatal diabetes mellitus 8, expanding its disease relevance beyond leukodystrophy.

Sources cited
1
EIF2B1 catalyzes GDP-GTP exchange on eIF2 gamma and repression by phosphorylated eIF2
PMID: 25858979
2
EIF2B1 functions as a component of eIF2B complex catalyzing nucleotide exchange
PMID: 27023709
3
EIF2B1 exchange factor activity repressed by eIF2 alpha phosphorylation limiting translation
PMID: 31048492
4
Decreased eIF2B activity triggers split ISR distinct from canonical ISR
PMID: 40140574
5
eIF2B is inhibited by phosphorylated eIF2 during integrated stress response
PMID: 41231936
6
EIF2B1 mutations cause vanishing white matter with variable onset and stress-provoked deterioration
PMID: 39322396
7
EIF2B1 pathogenic variants reduce eIF2B activity causing VWM and ISR dysregulation
PMID: 41232062
8
EIF2B1 identified as novel monogenic neonatal diabetes mellitus gene
PMID: 39344692
Disease Associationsβ“˜21
leukoencephalopathy with vanishing white matter 1Open Targets
0.79Strong
leukoencephalopathy with vanishing white matterOpen Targets
0.75Strong
CACH syndromeOpen Targets
0.69Moderate
ovarioleukodystrophyOpen Targets
0.38Weak
congenital or early infantile CACH syndromeOpen Targets
0.37Weak
juvenile or adult CACH syndromeOpen Targets
0.37Weak
late infantile CACH syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.29Weak
skin diseaseOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
microcephalyOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
systemic sclerodermaOpen Targets
0.04Suggestive
premature menopauseOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
leukodystrophyOpen Targets
0.03Suggestive
Leukoencephalopathy with vanishing white matter 1UniProt
Pathogenic Variants36
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2025β†’ Residue 147
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)Pathogenic
not provided|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 257
NM_001414.4(EIF2B1):c.773_777dup (p.Ala260fs)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2024β†’ Residue 260
NM_001414.4(EIF2B1):c.588_589del (p.Gly196_Ala197insTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 196
NM_001414.4(EIF2B1):c.461_462del (p.Glu154fs)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 1
β˜…β˜…β˜†β˜†2024β†’ Residue 154
NM_001414.4(EIF2B1):c.816G>A (p.Trp272Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 272
NM_001414.4(EIF2B1):c.383dup (p.His128fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_001414.4(EIF2B1):c.552-2A>TPathogenic
See cases
β˜…β˜†β˜†β˜†2025
NM_001414.4(EIF2B1):c.719del (p.Pro240fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 240
NM_001414.4(EIF2B1):c.171T>A (p.Cys57Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 57
NM_001414.4(EIF2B1):c.115+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001414.4(EIF2B1):c.292G>T (p.Glu98Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 98
NM_001414.4(EIF2B1):c.812_813insT (p.Trp272fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 272
NM_001414.4(EIF2B1):c.453C>A (p.Tyr151Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 151
NM_001414.4(EIF2B1):c.65C>G (p.Ser22Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 22
NM_001414.4(EIF2B1):c.458_459del (p.Thr153fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 153
NM_001414.4(EIF2B1):c.252+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001414.4(EIF2B1):c.14-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001414.4(EIF2B1):c.693_694del (p.Ser232fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 232
View on ClinVar β†—
Related Genes
TYMPProtein interaction100%EIF2S1Protein interaction100%EIF2S2Protein interaction100%EIF2S3Protein interaction100%EIF2S3BProtein interaction98%EIF2B3Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
95%
Heart
82%
Liver
79%
Lung
78%
Brain
57%
Gene Interaction Network
Click a node to explore
EIF2B1TYMPEIF2S1EIF2S2EIF2S3EIF2S3BEIF2B3
PROTEIN STRUCTURE
Preparing viewer…
PDB7VLK Β· 2.27 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.58–1.06]
RankingsWhere EIF2B1 stands among ~20K protein-coding genes
  • #4,313of 20,598
    Most Researched110 Β· top quartile
  • #1,648of 5,498
    Most Pathogenic Variants36
  • #10,650of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedEIF2B1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Glucocorticoid-induced skeletal muscle atrophy.
PMID: 23806868
Int J Biochem Cell Biol Β· 2013
1.00
2
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig Β· 2024
0.90
3
Ingested protein dose response of muscle and albumin protein synthesis after resistance exercise in young men.
PMID: 19056590
Am J Clin Nutr Β· 2009
0.80
4
Plasticity of the mammalian integrated stress response.
PMID: 40140574
Nature Β· 2025
0.70
5
Vanishing white matter.
PMID: 39322396
Handb Clin Neurol Β· 2024
0.60