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.
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
Chromosome 14 Β· 14q24.3
NCBI Gene: 8892Ensembl: ENSG00000119718.12HGNC: HGNC:3258UniProt: P49770
97PubMed Papers
21Diseases
0Drugs
39Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of translational initiationcytoplasmT cell receptor signaling pathwayATP bindingCACH syndromeleukoencephalopathy with vanishing white matterleukoencephalopathy with vanishing white matter 1leukoencephalopathy with vanishing white matter 2
✦AI Summary

EIF2B2 encodes the beta subunit of eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) that catalyzes GDP-to-GTP exchange on eIF2 gamma to enable translation initiation 123. When eIF2 alpha is phosphorylated during cellular stress, EIF2B2-containing eIF2B becomes inhibited, suppressing global translation and allowing stress-responsive gene expression 13. Mutations in EIF2B2 cause leukoencephalopathy with vanishing white matter (VWM), an autosomal recessive neurological disease characterized by progressive white matter loss and cystic degeneration 45. VWM manifests with variable onset (infantile to adult) and is triggered by physical stress or infection 6. Mechanistically, EIF2B2 mutations impair the integrated stress response, causing prolonged translational hyperrepression during acute stress and delayed recovery of stress-induced gene expression, leading to white matter vulnerability 7. Adult genetic leukoencephalopathy studies show EIF2B mutations account for approximately half of astrocytopathy cases 5. Additionally, EIF2B2 variants have been identified as potential genetic risk factors in premature ovarian insufficiency 89 and as CAD/myocardial infarction risk genes in immune-related contexts 10, suggesting pleiotropic functions beyond translation initiation.

Sources cited
1
EIF2B2 catalyzes GDP-GTP exchange on eIF2 gamma and its activity is repressed by eIF2 alpha phosphorylation
PMID: 25858979
2
EIF2B2 is a component of the eIF2B complex with GEF activity
PMID: 27023709
3
EIF2B2 GEF activity is repressed when bound to phosphorylated eIF2, limiting translational initiation
PMID: 31048492
4
EIF2B2 mutations cause autosomal recessive vanishing white matter disease with progressive white matter rarefaction and cystic degeneration
PMID: 16807905
5
EIF2B2-5 mutations account for approximately half of astrocytopathy cases in adult genetic leukoencephalopathies
PMID: 36380532
6
EIF2B2 mutations cause infantile-onset VWM with seizures and poor prognosis; early forms are associated with rapid neurological worsening
PMID: 35897042
7
EIF2B2 mutations impair the integrated stress response, causing prolonged translational suppression and delayed recovery during cellular stress
PMID: 29632131
8
EIF2B2 variants detected as potential genetic risk factors in premature ovarian insufficiency
PMID: 38649916
9
EIF2B2 variants identified as causative genes in premature ovarian insufficiency in adolescents
PMID: 41393291
10
High EIF2B2 expression heightens coronary artery disease and myocardial infarction risk
PMID: 39180487
Disease Associationsβ“˜21
CACH syndromeOpen Targets
0.82Strong
leukoencephalopathy with vanishing white matterOpen Targets
0.78Strong
leukoencephalopathy with vanishing white matter 1Open Targets
0.72Strong
leukoencephalopathy with vanishing white matter 2Open Targets
0.64Moderate
ovarioleukodystrophyOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
Premature ovarian insufficiencyOpen Targets
0.42Moderate
congenital or early infantile CACH syndromeOpen Targets
0.37Weak
juvenile or adult CACH syndromeOpen Targets
0.37Weak
late infantile CACH syndromeOpen Targets
0.37Weak
osteogenesis imperfectaOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
Abnormality of the nervous systemOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.29Weak
skin agingOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
otosclerosisOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
diverticular diseaseOpen Targets
0.07Suggestive
Leukoencephalopathy with vanishing white matter 2UniProt
Pathogenic Variants39
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)Pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2026β†’ Residue 203
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)Pathogenic
Vanishing white matter disease|not provided|See cases|Inborn genetic diseases|Leukoencephalopathy with vanishing white matter 2|EIF2B2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 200
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2|See cases|Leukoencephalopathy with vanishing white matter 1|EIF2B2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 213
NM_014239.4(EIF2B2):c.285-1G>ALikely pathogenic
not provided|Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 2|Clear cell carcinoma of kidney
β˜…β˜…β˜†β˜†2026
NM_014239.4(EIF2B2):c.570del (p.Ile190fs)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2025β†’ Residue 190
NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe)Pathogenic
Leukoencephalopathy with vanishing white matter 2|Vanishing white matter disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)Pathogenic
Premature ovarian insufficiency|not provided|Vanishing white matter disease|Osteogenesis imperfecta|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2025β†’ Residue 273
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)Pathogenic
Abnormality of the nervous system|not provided|Leukoencephalopathy with vanishing white matter 2|Vanishing white matter disease
β˜…β˜…β˜†β˜†2025β†’ Residue 85
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)Pathogenic
Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2025β†’ Residue 316
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)Pathogenic
Vanishing white matter disease|not provided|Abnormality of the nervous system|EIF2B2-related disorder|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2024β†’ Residue 308
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)Pathogenic
Leukoencephalopathy with vanishing white matter 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 183
NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)Pathogenic
not provided|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_014239.4(EIF2B2):c.832-2A>GLikely pathogenic
not provided|Leukoencephalopathy with vanishing white matter 2
β˜…β˜…β˜†β˜†2024
NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser)Pathogenic
Vanishing white matter disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 291
NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)Pathogenic
Vanishing white matter disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 304
NM_014239.4(EIF2B2):c.677del (p.Met226fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 226
NM_014239.4(EIF2B2):c.877dup (p.Glu293fs)Pathogenic
Vanishing white matter disease
β˜…β˜†β˜†β˜†2024β†’ Residue 293
NM_014239.4(EIF2B2):c.544_545insA (p.Ala182fs)Likely pathogenic
Leukoencephalopathy with vanishing white matter 2
β˜…β˜†β˜†β˜†2024β†’ Residue 182
NM_014239.4(EIF2B2):c.586C>T (p.Pro196Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter)Pathogenic
Premature ovarian insufficiency|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 172
View on ClinVar β†—
Related Genes
EIF2S3BProtein interaction92%EIF2B1Protein interaction86%OPN3Protein interaction79%TYMPProtein interaction78%EIF2S1Protein interaction76%RABIFProtein interaction76%
Tissue Expression6 tissues
Brain
100%
Heart
77%
Lung
72%
Liver
59%
Ovary
58%
Bone Marrow
33%
Gene Interaction Network
Click a node to explore
EIF2B2EIF2S3BEIF2B1OPN3TYMPEIF2S1RABIF
PROTEIN STRUCTURE
Preparing viewer…
PDB7VLK Β· 2.27 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.69–1.25]
RankingsWhere EIF2B2 stands among ~20K protein-coding genes
  • #4,934of 20,598
    Most Researched97 Β· top quartile
  • #1,563of 5,498
    Most Pathogenic Variants39
  • #13,181of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedEIF2B2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
PMID: 36380532
Brain Β· 2023
1.00
2
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
PMID: 22729508
Neurol Sci Β· 2013
0.90
3
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
PMID: 38649916
BMC Med Genomics Β· 2024
0.80
4
The impact of immunity on the risk of coronary artery disease: insights from a multiomics study.
PMID: 39180487
Postgrad Med J Β· 2024
0.70
5
Vanishing white matter disease: a review with focus on its genetics.
PMID: 16807905
Ment Retard Dev Disabil Res Rev Β· 2006
0.60