EEFSEC

Chr 3

eukaryotic elongation factor, selenocysteine-tRNA specific

Also known as: EFSEC, NEDPSB, SELB

NCBI Gene: 60678ENSG00000132394UniProt: P57772

Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with progressive spasticity and brain abnormalities
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted
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?
1.18LOEUF
pLI 0.000
Z-score 0.98
OE 0.76 (0.50–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.91 (0.83–0.99)
325 obs / 358.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.50–1.18)
0≤0.351.4
Missense OE?0.91 (0.83–0.99)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 14 / 18.5Missense obs/exp: 325 / 358.8Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EEFSEC · 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