EEF2KMT

Chr 16

eukaryotic elongation factor 2 lysine methyltransferase

Also known as: EFM3, FAM86A, SB153, eEF2-KMT

NCBI Gene: 196483ENSG00000118894UniProt: Q96G04

Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in cytoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.78
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.78LOEUF
pLI 0.000
Z-score -0.98
OE 1.27 (0.89–1.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.92Z-score
OE missense 1.38 (1.25–1.53)
274 obs / 198.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.27 (0.89–1.78)
0≤0.351.4
Missense OE?1.38 (1.25–1.53)
0≤0.61.4
Synonymous OE?1.33
0≤1.21.6
LoF obs/exp: 20 / 15.8Missense obs/exp: 274 / 198.1Syn Z: -2.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EEF2KMT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients