EIF4A2
Chr 3ADAReukaryotic translation initiation factor 4A2
Also known as: BM-010, DDX2B, EIF4A, EIF4F, NEDHSS, eIF-4A-II, eIF4A-II
EIF4A2 encodes an ATP-dependent RNA helicase that unwinds secondary structures in the 5'-untranslated regions of mRNAs to facilitate ribosome binding and translation initiation. Mutations cause neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, inherited in either autosomal dominant or autosomal recessive patterns. The gene is highly constrained against loss-of-function variation (pLI 0.998, LOEUF 0.205), indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF4A2 · 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