NFKBIE

Chr 6

NFKB inhibitor epsilon

Also known as: IKBE

NCBI Gene: 4794ENSG00000146232UniProt: O00221

The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]

ResearchGenerating 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
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.43
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.771
Z-score 3.28
OE 0.17 (0.07–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.47Z-score
OE missense 0.75 (0.67–0.84)
213 obs / 282.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.07–0.43)
0≤0.351.4
Missense OE?0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 3 / 18.0Missense obs/exp: 213 / 282.3Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NFKBIE · 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