EIF3L

Chr 22

eukaryotic translation initiation factor 3 subunit L

Also known as: EIF3EIP, EIF3S11, EIF3S6IP, HSPC021, HSPC025, MSTP005

NCBI Gene: 51386ENSG00000100129UniProt: Q9Y262OMIM: 619197

EIF3L encodes a component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis initiation, mRNA recruitment to ribosomes, and regulation of translation for genes involved in cell proliferation and apoptosis. The gene is highly constrained against loss-of-function variants (pLI 0.84, LOEUF 0.37), but no established Mendelian diseases have been definitively associated with EIF3L mutations in current clinical literature. Given the fundamental role in translation and high constraint metrics, pathogenic variants would likely follow an autosomal dominant inheritance pattern if disease associations are established.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.37
Clinical Summary— EIF3L
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
24 unique Pathogenic / Likely Pathogenic· 36 VUS of 96 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.37LOEUF
pLI 0.838
Z-score 4.30
OE 0.19 (0.10–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.70Z-score
OE missense 0.58 (0.52–0.66)
191 obs / 328.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.19 (0.10–0.37)
0≤0.351.4
Missense OE0.58 (0.52–0.66)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 6 / 32.4Missense obs/exp: 191 / 328.9Syn Z: -0.09

ClinVar Variant Classifications

96 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic2
VUS36
Likely Benign1
Benign1
Conflicting1
22
Pathogenic
2
Likely Pathogenic
36
VUS
1
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
2
0
2
VUS
0
35
1
0
36
Likely Benign
0
0
0
1
1
Benign
0
0
0
1
1
Conflicting
—1
Total03525263

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EIF3L · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Development of a 32-gene signature using machine learning for accurate prediction of inflammatory bowel disease
Yu S et al.·Cell Regen
2023
Evaluation of identification methods for cryptic Bactrocera dorsalis (Diptera: Tephritidae) specimens: combining morphological and molecular techniques
Charbonnel E et al.·J Econ Entomol
2023
Sevoflurane Exposure in Juvenile Causes Persistent Learning and Memory Impairment via Inducing Endoplasmic Reticulum Stress in Caenorhabditis elegans and Mice.
Zhao A et al.·Neurotoxicology
2025
Loop-mediated isothermal amplification (LAMP) assays for detection of the New Guinea fruit fly Bactrocera trivialis (Drew) (Diptera: Tephritidae)
Starkie ML et al.·Sci Rep
2022
Domain architecture of plant eukaryotic translation initiation factor 3 subunit E governs interaction with translational cis-elements to regulate pollen tube growth
Kumar V et al.·Plant Cell
2026
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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