EIF4E2
Chr 2eukaryotic translation initiation factor 4E family member 2
Also known as: 4E-LP, 4EHP, EIF4EL3, IF4e, h4EHP
The EIF4E2 protein recognizes and binds the 7-methylguanosine mRNA cap and acts as a repressor of translation initiation, competing with EIF4E to block assembly of the translation initiation complex. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.495), primarily affecting the central nervous system.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
71 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 | 0 | 0 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 23 | 5 | 0 | 28 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 23 | 38 | 0 | 61 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF4E2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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