IER5

Chr 1

immediate early response 5

Also known as: SBBI48

NCBI Gene: 51278ENSG00000162783UniProt: Q5VY09

This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [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
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.45
LOEUF
LOF
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?
0.45LOEUF
pLI 0.869
Z-score 2.39
OE 0.00 (0.00–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.00Z-score
OE missense 1.00 (0.88–1.14)
159 obs / 158.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.45)
0≤0.351.4
Missense OE?1.00 (0.88–1.14)
0≤0.61.4
Synonymous OE?1.45
0≤1.21.6
LoF obs/exp: 0 / 6.6Missense obs/exp: 159 / 158.9Syn Z: -2.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IER5 · 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