EEF2K
Chr 16eukaryotic elongation factor 2 kinase
Also known as: CaMKIII, HSU93850, eEF-2K
This gene encodes eukaryotic elongation factor 2 kinase, a threonine kinase that regulates protein synthesis by phosphorylating elongation factor EEF2 and rendering it unable to bind ribosomes. Mutations cause neurodevelopmental disorder with seizures and nystagmus, inherited in an autosomal recessive pattern. The gene is extremely intolerant to loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EEF2K · 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