EIF3B

Chr 7

eukaryotic translation initiation factor 3 subunit B

Also known as: EIF3-ETA, EIF3-P110, EIF3-P116, EIF3S9, PRT1

NCBI Gene: 8662ENSG00000106263UniProt: P55884

Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in cytoplasmic stress granule. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025]

230
ClinVar variants
35
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— EIF3B
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
35 Pathogenic / Likely Pathogenic· 159 VUS of 230 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
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.
0.07LOEUF
pLI 1.000
Z-score 6.19
OE 0.00 (0.00–0.07)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

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.
1.82Z-score
OE missense 0.75 (0.69–0.83)
327 obs / 433.7 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.0.00 (0.00–0.07)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.69–0.83)
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.1.39
0≤1.21.6
LoF obs/exp: 0 / 44.6Missense obs/exp: 327 / 433.7Syn Z: -3.97

ClinVar Variant Classifications

230 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic1
VUS159
Likely Benign5
Benign31
34
Pathogenic
1
Likely Pathogenic
159
VUS
5
Likely Benign
31
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
1
0
1
VUS
5
127
27
0
159
Likely Benign
0
1
1
3
5
Benign
0
2
22
7
31
Total51308510230

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

View in ClinVar →

Protein Context — Lollipop Plot

EIF3B · protein map & ClinVar variants

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

Gene2Phenotype Curations

EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism

moderate
ADLoss Of FunctionDecreased Gene Product Level
Dev. Disorders
G2P ↗
frameshift variantstop gainedmissense variantsplice acceptor variant NMD escaping

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
FOXA1-dependent PUS1 regulates EIF3b stability in a non-enzymatic pathway mediating prostate cancer bone metastasis.
Wu Y et al.·Int J Biol Sci
2024
Shared molecular biomarkers and therapeutic targets in rheumatoid arthritis and osteoarthritis: Focus on EIF3B, KHSRP, NCL, PDCD1LG2, and SLC25A37.
Li H et al.·Cytokine
2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E et al.·Am J Hum Genet
2025
EIF3B Associates with Exacerbated Clinical Features, Poor Treatment Response and Survival in Adult Philadelphia Chromosome Negative Acute Lymphoblastic Leukemia Patients.
Zhu F et al.·Technol Cancer Res Treat
2021Cohort
Integration of bioinformatics and identification of the role of m6A genes in NAFLD.
Ma J et al.·PLoS One
2025
Translation initiation factor eIF3b expression in human cancer and its role in tumor growth and lung colonization.
Wang H et al.·Clin Cancer Res
2013
Eukaryotic translation initiation factor 3 subunit B could serve as a potential prognostic predictor for breast cancer.
Song S et al.·Bioengineered
2022
Eukaryotic translation initiation factor 3B accelerates the progression of esophageal squamous cell carcinoma by activating β-catenin signaling pathway.
Xu F et al.·Oncotarget
2016
EIF3B affects the invasion and metastasis of hepatocellular carcinoma cells via the TGFBI/MAPK/ERK pathway.
Wang L et al.·Ann Hepatol
2025
[The study on effect of EIF3B in laryngeal carcinoma].
Tan J et al.·Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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