EIF3CL

Chr 16

eukaryotic translation initiation factor 3 subunit C like

The encoded protein is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which binds the 40S ribosome and facilitates multiple steps in protein synthesis initiation, including mRNA recruitment and ribosomal scanning for translation start sites. Currently, no specific diseases have been definitively associated with mutations in this gene in medical literature. The gene shows tolerance to loss-of-function variants based on population genetics data.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.70
Clinical SummaryEIF3CL
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.70LOEUF
pLI 0.012
Z-score 0.49
OE 0.74 (0.331.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.91Z-score
OE missense 0.58 (0.410.83)
21 obs / 36.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.74 (0.331.70)
00.351.4
Missense OE0.58 (0.410.83)
00.61.4
Synonymous OE0.58
01.21.6
LoF obs/exp: 3 / 4.1Missense obs/exp: 21 / 36.4Syn Z: 1.23
DN
0.6746th %ile
GOF
0.5857th %ile
LOF
0.3355th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EIF3CL · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found