IER3

Chr 6

immediate early response 3

Also known as: DIF-2, DIF2, GLY96, IEX-1, IEX-1L, IEX1, PRG1

NCBI Gene: 8870ENSG00000137331UniProt: P46695

This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]

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
40
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
GOF
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?
0.93LOEUF
pLI 0.631
Z-score 1.66
OE 0.00 (0.00–0.93)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
1.23Z-score
OE missense 0.63 (0.51–0.79)
55 obs / 87.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.93)
0≤0.351.4
Missense OE?0.63 (0.51–0.79)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 0 / 3.2Missense obs/exp: 55 / 87.5Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IER3 · 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