EIF4A2

Chr 3

eukaryotic translation initiation factor 4A2

Also known as: BM-010, DDX2B, EIF4A, EIF4F, NEDHSS, eIF-4A-II, eIF4A-II

NCBI Gene: 1974 ENSG00000156976 UniProt: Q14240

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Enables ATP hydrolysis activity. Involved in negative regulation of RNA-dependent RNA polymerase activity. Located in perinuclear region of cytoplasm. Implicated in neurodevelopmental disorder with hypotonia and speech delay. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia and speech delay, with or without seizures

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — EIF4A2