EEF2K

Chr 16

eukaryotic elongation factor 2 kinase

Also known as: CaMKIII, HSU93850, eEF-2K

NCBI Gene: 29904 ENSG00000103319 UniProt: O00418 OMIM: 606968

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.08

Clinical Summary— EEF2K

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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