ERI2

Chr 16

ERI1 exoribonuclease family member 2

Also known as: EXOD1, ZGRF5

NCBI Gene: 112479ENSG00000196678UniProt: A8K979

Predicted to enable 3'-5'-RNA exonuclease activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and negative regulation of regulatory ncRNA-mediated heterochromatin formation. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
DN
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.66
OE 0.66 (0.46–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.50Z-score
OE missense 0.77 (0.69–0.85)
260 obs / 337.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.46–0.97)
0≤0.351.4
Missense OE?0.77 (0.69–0.85)
0≤0.61.4
Synonymous OE?0.67
0≤1.21.6
LoF obs/exp: 19 / 28.6Missense obs/exp: 260 / 337.7Syn Z: 2.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERI2 · 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