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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EEF2KMT
eukaryotic elongation factor 2 lysine methyltransferase
Chromosome 16 Β· 16p13.3
NCBI Gene: 196483Ensembl: ENSG00000118894.15HGNC: HGNC:32221UniProt: K7ES84
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-lysine N-methyltransferase activitypeptidyl-lysine trimethylationcytoplasmALG1-congenital disorder of glycosylationgenetic disordercongenital disorder of glycosylationsplenic disease
✦AI Summary

EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase), also known as FAM86A, is a class I lysine methyltransferase that catalyzes trimethylation of eukaryotic elongation factor 2 (EEF2) at lysine-525 1. This modification is evolutionarily conserved, with functional orthologues identified in yeast 1. The enzyme contains an N-terminal FAM86 domain of previously unknown function that mediates substrate specificity and EEF2 recognition, alongside a C-terminal methyltransferase domain 2. The FAM86 domain represents a noncatalytic structural element essential for protein lysine methylation, providing substrate-specific interactions distinct from the conserved S-adenosyl methionine cofactor binding domain 2. Functionally, EEF2-Lys525 methylation is important for translation fidelity; yeast deficient in the EEF2KMT orthologue show increased frameshifting during protein translation and heightened sensitivity to translation inhibitors 1. Clinically, EEF2KMT is emerging as a cancer-relevant gene, with hundreds of human cancer cell lines showing high dependence on its expression 2. Notably, a truncating variant (p.K116*) in EEF2KMT was identified as a high-confidence stop-gain mutation segregating in familial Hodgkin lymphoma pedigrees, suggesting potential involvement in lymphomagenesis predisposition 3.

Sources cited
1
EEF2KMT (FAM86A) catalyzes trimethylation of EEF2 at Lys-525; function is evolutionarily conserved with yeast orthologue; yeast deficiency causes increased frameshifting and sordarin sensitivity
PMID: 25231979
2
FAM86 domain mediates EEF2 substrate specificity; cancer cell lines show high dependence on FAM86A/EEF2KMT expression; FAM86 domain is noncatalytic but essential for methylation
PMID: 37209825
3
Stop-gain variant in EEF2KMT (p.K116*) identified as high-confidence segregating variant in familial Hodgkin lymphoma pedigrees
PMID: 35977101
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
ALG1-congenital disorder of glycosylationOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.40Moderate
congenital disorder of glycosylationOpen Targets
0.26Weak
splenic diseaseOpen Targets
0.21Weak
rheumatoid arthritisOpen Targets
0.20Weak
smoking initiationOpen Targets
0.18Weak
Peyronie diseaseOpen Targets
0.18Weak
acute tonsillitisOpen Targets
0.17Weak
pathological myopiaOpen Targets
0.17Weak
systemic inflammatory response syndromeOpen Targets
0.17Weak
alcohol drinkingOpen Targets
0.17Weak
chronic laryngitisOpen Targets
0.17Weak
liver diseaseOpen Targets
0.17Weak
blood coagulation diseaseOpen Targets
0.17Weak
cardiomyopathyOpen Targets
0.17Weak
cholelithiasisOpen Targets
0.16Weak
jaw diseaseOpen Targets
0.16Weak
rhabdomyolysisOpen Targets
0.16Weak
secondary malignant neoplasmOpen Targets
0.16Weak
focal segmental glomerulosclerosisOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PRTFDC1Protein interaction79%VCPKMTProtein interaction75%EEF1AKMT2Protein interaction69%ANTKMTShared pathway50%ATPSCKMTShared pathway50%ETFBKMTShared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
98%
Heart
89%
Ovary
60%
Lung
59%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
EEF2KMTPRTFDC1VCPKMTEEF1AKMT2ANTKMTATPSCKMTETFBKMT
PROTEIN STRUCTURE
Preparing viewer…
PDB8FZB Β· 3.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.77–1.38]
RankingsWhere EEF2KMT stands among ~20K protein-coding genes
  • #14,690of 20,598
    Most Researched18
  • #14,353of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedEEF2KMT
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
PMID: 35977101
Blood Β· 2023
1.00
2
The FAM86 domain of FAM86A confers substrate specificity to promote EEF2-Lys525 methylation.
PMID: 37209825
J Biol Chem Β· 2023
0.67
3
Identification and characterization of a novel evolutionarily conserved lysine-specific methyltransferase targeting eukaryotic translation elongation factor 2 (eEF2).
PMID: 25231979
J Biol Chem Β· 2014
0.33