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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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EEFSEC
eukaryotic elongation factor, selenocysteine-tRNA specific
Chromosome 3 Β· 3q21.3
NCBI Gene: 60678Ensembl: ENSG00000132394.11HGNC: HGNC:24614UniProt: C9J8T0
55PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTPase activityselenocysteine incorporationtranslation elongation factor activityribonucleoprotein complex bindingneurodegenerative diseaseneurodevelopmental disorder with progressive spasticity and brain abnormalitiesprostate carcinomaasthma
✦AI Summary

EEFSEC encodes a specialized eukaryotic elongation factor required for incorporating selenocysteine, the 21st proteinogenic amino acid, at UGA codons during translation 12. The protein functions through a multi-step mechanism where SECISBP2 binds SECIS sequences and contacts ribosomal protein RPS27A/eS31, followed by GTP-bound EEFSEC delivering selenocysteinyl-tRNA(Sec) to the 80S ribosome in a preaccommodated state 2. After GTP hydrolysis, EEFSEC dissociates, allowing selenocysteinyl-tRNA(Sec) accommodation and peptide synthesis 2. Structurally, EEFSEC adopts a chalice-like conformation with four domains and exhibits similar binding affinities for GDP, GTP, and other guanine nucleotides 1. Unlike canonical elongation factors, nucleotide exchange induces conformational changes in domain 4 rather than domain 1 1. Biallelic EEFSEC variants cause a selenopathy characterized by progressive neurodegeneration, global developmental delay, spasticity, ataxia, seizures, and cerebellar atrophy 34. This disorder results from reduced selenoprotein levels due to impaired EEFSEC function 3. EEFSEC variants have also been associated with preterm birth 5 and periodontitis Grade C 6, highlighting its broader clinical significance beyond selenoprotein biosynthesis.

Sources cited
1
EEFSEC delivers selenocysteinyl-tRNA(Sec) to ribosomes through a SECISBP2-mediated mechanism
PMID: 35709277
2
EEFSEC has a chalice-like structure with non-canonical nucleotide exchange mechanism
PMID: 27708257
3
EEFSEC deficiency causes progressive neurodegeneration with selenoprotein deficiency
PMID: 39753114
4
EEFSEC variants cause cerebellar atrophy and developmental delay
PMID: 40652205
5
EEFSEC variants are associated with gestational duration and preterm birth
PMID: 28877031
6
EEFSEC variants are associated with periodontitis Grade C
PMID: 37466550
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.52Moderate
neurodevelopmental disorder with progressive spasticity and brain abnormalitiesOpen Targets
0.49Moderate
prostate carcinomaOpen Targets
0.48Moderate
asthmaOpen Targets
0.44Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.42Moderate
prostate cancerOpen Targets
0.41Moderate
atrial fibrillationOpen Targets
0.38Weak
female genital tract polypOpen Targets
0.36Weak
endometriosisOpen Targets
0.35Weak
hypospadiasOpen Targets
0.31Weak
glaucomaOpen Targets
0.30Weak
gastroesophageal reflux diseaseOpen Targets
0.30Weak
childhood onset asthmaOpen Targets
0.30Weak
benign prostatic hyperplasiaOpen Targets
0.30Weak
respiratory system diseaseOpen Targets
0.28Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.27Weak
infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyOpen Targets
0.27Weak
myotonic syndromeOpen Targets
0.26Weak
Chronic Obstructive AsthmaOpen Targets
0.25Weak
Neurodevelopmental disorderOpen Targets
0.25Weak
Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesUniProt
Pathogenic Variants4
NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)Likely pathogenic
Autosomal recessive non-syndromic intellectual disability
β˜…β˜†β˜†β˜†2024β†’ Residue 390
NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)Likely pathogenic
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly|Neurodevelopmental disorder with progressive spasticity and brain abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 585
NM_021937.5(EEFSEC):c.1A>G (p.Met1Val)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain abnormalities
β˜†β˜†β˜†β˜†2025β†’ Residue 1
NM_021937.5(EEFSEC):c.1278C>A (p.Cys426Ter)Pathogenic
Neurodevelopmental disorder with progressive spasticity and brain abnormalities
β˜†β˜†β˜†β˜†2025β†’ Residue 426
View on ClinVar β†—
Related Genes
SECISBP2LShared pathway100%SEPSECSShared pathway100%TRNAU1APShared pathway100%RPS11Protein interaction100%RPL3Protein interaction100%RPS27Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
97%
Ovary
61%
Brain
60%
Lung
55%
Bone Marrow
49%
Gene Interaction Network
Click a node to explore
EEFSECSECISBP2LSEPSECSTRNAU1APRPS11RPL3RPS27
PROTEIN STRUCTURE
Preparing viewer…
PDB5IZL Β· 2.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.34LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.82–1.34]
RankingsWhere EEFSEC stands among ~20K protein-coding genes
  • #8,197of 20,598
    Most Researched55
  • #3,784of 5,498
    Most Pathogenic Variants4
  • #14,077of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedEEFSEC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure of the mammalian ribosome as it decodes the selenocysteine UGA codon.
PMID: 35709277
Science Β· 2022
1.00
2
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
PMID: 39753114
Am J Hum Genet Β· 2025
0.90
3
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.
PMID: 40652205
J Neurodev Disord Β· 2025
0.80
4
Understanding the role of tRNA modifications in UGA recoding as selenocysteine in eukaryotes.
PMID: 39988117
J Mol Biol Β· 2025
0.70
5
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population.
PMID: 37466550
J Appl Oral Sci Β· 2023
0.60