EIF3E

Chr 8

eukaryotic translation initiation factor 3 subunit E

Also known as: EIF3-P48, EIF3S6, INT6, eIF3-p46

NCBI Gene: 3646 ENSG00000104408 UniProt: P60228 OMIM: 602210

The EIF3E protein is a component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis by facilitating ribosome assembly and mRNA recruitment during translational initiation. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.533), affecting primarily the central nervous system and growth parameters.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity and cadherin binding activity. Contributes to translation initiation factor activity. Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; and translational initiation. Located in PML body and cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.53

LOEUF

Mechanism· predicted