EIF4E2

Chr 2

eukaryotic translation initiation factor 4E family member 2

Also known as: 4E-LP, 4EHP, EIF4EL3, IF4e, h4EHP

NCBI Gene: 9470 ENSG00000135930 UniProt: O60573

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.

ResearchSummary from RefSeq, UniProt

Enables RNA 7-methylguanosine cap binding activity; mRNA cap binding activity; and ubiquitin protein ligase binding activity. Involved in negative regulation of translational initiation; negative regulation of type I interferon-mediated signaling pathway; and rescue of stalled cytosolic ribosome. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Acts upstream of or within negative regulation of translation. Located in P-body and cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism

Some data sources returned errors (1)

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