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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ERO1B
endoplasmic reticulum oxidoreductase 1 beta
Chromosome 1 · 1q42.3
NCBI Gene: 56605Ensembl: ENSG00000086619.15HGNC: HGNC:14355UniProt: Q86YB8
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
thiol oxidase activityprotein bindingprotein-disulfide reductase activityprotein folding in endoplasmic reticulumtype 2 diabetes mellitusovarian dysfunctionAbnormal nasolacrimal system morphologyearly-onset non-syndromic cataract
✦AI Summary

ERO1B is an endoplasmic reticulum (ER) oxidoreductase that catalyzes disulfide bond formation essential for protein folding. It functions by reoxidizing protein disulfide isomerase (P4HB/PDI), the primary enzyme catalyzing disulfide bond formation, enabling continued rounds of protein disulfide formation 1. Following P4HB reoxidation, ERO1B transfers electrons to molecular oxygen via FAD, generating reactive oxygen species (ROS) in the process. The enzyme preferentially reoxidizes P4HB (100% reference rate) over other PDI family members, with PDIA2 at ~50% efficiency and others at <10% 2. ERO1B plays a critical role in pancreatic beta-cell function, particularly in oxidative proinsulin folding and glucose homeostasis. Genetic variants affecting ERO1B splicing are associated with type 2 diabetes (T2D) susceptibility, with splicing QTLs creating nonsense isoforms that disrupt its role as an ER-stress regulator 1. Recent functional studies confirmed that ERO1B knockdown affects glucose-stimulated insulin secretion in beta cells 2. Proteomic analyses reveal reduced ERO1B expression in prediabetic islets with impaired beta-cell glucose sensitivity, suggesting involvement in early T2D pathogenesis 3. Additionally, ERO1B exhibits causal associations with lung function and appears in prognostic models for various cancers, indicating broader physiological relevance beyond glucose homeostasis 4.

Sources cited
1
T2D susceptibility associated with ERO1B nonsense isoform from splicing QTL; ERO1B functions as regulator of ER-stress and proinsulin biosynthesis
PMID: 36109769
2
ERO1B knockdown affects glucose-stimulated insulin production and secretion in EndoC-βH1 cells; identified as candidate effector gene for T2D through integration of islet transcriptomics with genetic association studies
PMID: 38967666
3
Reduced ERO1B expression in prediabetic islets with impaired beta-cell glucose sensitivity; involved in insulin maturation
PMID: 41854718
4
ERO1B shows causal association with forced expiratory volume (lung function) in Mendelian randomization analysis
PMID: 38238732
5
ERO1B mRNA elevated as ER stress marker in Western diet plus ethanol binge-induced liver injury
PMID: 37314747
6
ERO1B included in prognostic risk model for esophageal cancer; low expression associated with sensitivity to FK866
PMID: 35568702
7
ERO1B expression levels associated with lung adenocarcinoma patient survival (p < 0.05)
PMID: 32235589
8
ERO1B included in SARS-CoV-2-related gene signature for glioma prognosis prediction
PMID: 36552760
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.23Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.13Weak
Developmental cataractOpen Targets
0.12Weak
early-onset non-syndromic cataractOpen Targets
0.12Weak
MODYOpen Targets
0.10Suggestive
type 1 diabetes mellitusOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.08Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.08Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.07Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.07Suggestive
gastric cancerOpen Targets
0.06Suggestive
exercise-induced hyperinsulinismOpen Targets
0.06Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.06Suggestive
diabetic ketoacidosisOpen Targets
0.06Suggestive
renal cysts and diabetes syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
JCHAINProtein interaction98%ERP44Protein interaction98%PDIA4Protein interaction92%ERP29Protein interaction92%HSPA5Protein interaction87%TXNDC5Protein interaction80%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
66%
Heart
47%
Ovary
45%
Brain
42%
Lung
31%
Gene Interaction Network
Click a node to explore
ERO1BJCHAINERP44PDIA4ERP29HSPA5TXNDC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86YB8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.43–0.83]
RankingsWhere ERO1B stands among ~20K protein-coding genes
  • #9,200of 20,598
    Most Researched47
  • #7,157of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedERO1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic regulation of RNA splicing in human pancreatic islets.
PMID: 36109769
Genome Biol · 2022
1.00
2
Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h.
PMID: 38967666
Diabetologia · 2024
0.90
3
Proteomic associations with forced expiratory volume: a Mendelian randomisation study.
PMID: 38238732
Respir Res · 2024
0.80
4
Establishment of prognostic risk model and drug sensitivity based on prognostic related genes of esophageal cancer.
PMID: 35568702
Sci Rep · 2022
0.70
5
Single ethanol binge causes severe liver injury in mice fed Western diet.
PMID: 37314747
Hepatol Commun · 2023
0.60