EIF2B2
Chr 14AReukaryotic translation initiation factor 2B subunit beta
Also known as: EIF-2Bbeta, EIF2B, EIF2Bbeta, VWM2
The protein encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B), which regulates protein synthesis by mediating GDP-GTP exchange for activation and deactivation of the translation initiation complex. Biallelic mutations cause leukoencephalopathy with vanishing white matter, an autosomal recessive disorder characterized by progressive white matter degeneration that can be associated with ovarian failure in females. The disease results from loss of EIF2B function, which disrupts cellular protein synthesis regulation particularly under stress conditions.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
367 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 15 | 2 | 13 | 0 | 30 |
Likely Pathogenic | 10 | 12 | 4 | 0 | 26 |
VUS | 0 | 93 | 15 | 2 | 110 |
Likely Benign | 0 | 1 | 63 | 88 | 152 |
Benign | 0 | 2 | 20 | 1 | 23 |
Conflicting | — | 11 | |||
| Total | 25 | 110 | 115 | 91 | 352 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF2B2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools