EIF3C

Chr 16

eukaryotic translation initiation factor 3 subunit C

Also known as: EIF3S8, eIF3-p110

NCBI Gene: 8663ENSG00000184110UniProt: Q99613

Enables ribosome binding activity. Contributes to translation initiation factor activity. Involved in positive regulation of translation and translational initiation. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025]

118
ClinVar variants
79
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— EIF3C
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
79 Pathogenic / Likely Pathogenic· 34 VUS of 118 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.93LOEUF
pLI 0.000
Z-score -0.84
OE 1.45 (0.73–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.07Z-score
OE missense 0.97 (0.77–1.25)
45 obs / 46.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.45 (0.73–1.93)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.77–1.25)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.64
0≤1.21.6
LoF obs/exp: 6 / 4.1Missense obs/exp: 45 / 46.2Syn Z: 1.19

ClinVar Variant Classifications

118 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic74
Likely Pathogenic5
VUS34
Benign1
Conflicting1
74
Pathogenic
5
Likely Pathogenic
34
VUS
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————74
Likely Pathogenic
————5
VUS
————34
Likely Benign
————0
Benign
————1
Conflicting
—1
Total—115

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EIF3C · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Circ-Eif3c Carried by M2 Macrophage-Derived Exosomes Mitigates Asthma Progression via miR-15a-5p/GSS/SOCS6 Axis Inhibition.
Yuan J et al.·Mediators Inflamm
2026🔓 Open Access
Proteome of amino acids or IGF1-stimulated pacu muscle cells offers molecular insights and suggests FN1B and EIF3C as candidate markers of fish muscle growth.
Perez ES et al.·Biochem Biophys Res Commun
2025
A novel EIF3C-related CD8+ T-cell signature in predicting prognosis and immunotherapy response of nasopharyngeal carcinoma.
Li R et al.·J Cancer Res Clin Oncol
2024🔓 Open Access
Complement factor H attenuates TNF-α-induced inflammation by upregulating EIF3C in rheumatoid arthritis.
Jia Y et al.·J Transl Med
2023🔓 Open Access
EIF3C Promotes Lung Cancer Tumorigenesis by Regulating the APP/HSPA1A/LMNB1 Axis.
Ding X et al.·Dis Markers
2022🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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