EIF3B

Chr 7

eukaryotic translation initiation factor 3 subunit B

Also known as: EIF3-ETA, EIF3-P110, EIF3-P116, EIF3S9, PRT1

NCBI Gene: 8662 ENSG00000106263 UniProt: P55884

EIF3B encodes an RNA-binding component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis initiation, mRNA recruitment to ribosomes, and ribosomal subunit assembly. Mutations cause autosomal dominant developmental delay with variable intellectual disability and dysmorphic features, with onset in early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in cytoplasmic stress granule and cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.07

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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