ERO1B

Chr 1

endoplasmic reticulum oxidoreductase 1 beta

Also known as: ERO1LB, Ero1beta

NCBI Gene: 56605ENSG00000086619UniProt: Q86YB8

Enables protein-disulfide reductase activity and thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum lumen and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
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?
0.85LOEUF
pLI 0.000
Z-score 2.22
OE 0.58 (0.40–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.91Z-score
OE missense 0.83 (0.74–0.94)
198 obs / 237.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.40–0.85)
0≤0.351.4
Missense OE?0.83 (0.74–0.94)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 19 / 32.7Missense obs/exp: 198 / 237.5Syn Z: -0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERO1B · 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