EIF4EBP2

Chr 10

eukaryotic translation initiation factor 4E binding protein 2

Also known as: 4EBP2, PHASII

NCBI Gene: 1979ENSG00000148730UniProt: Q13542OMIM: 602224

This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.306
Z-score 1.40
OE 0.25 (0.09–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.07Z-score
OE missense 0.98 (0.80–1.20)
65 obs / 66.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.09–1.16)
0≤0.351.4
Missense OE?0.98 (0.80–1.20)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 1 / 4.0Missense obs/exp: 65 / 66.6Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EIF4EBP2 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients