ERO1B
protein-codingendoplasmic reticulum oxidoreductase 1 beta
Gene summary
Enables protein-disulfide reductase activity and thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]
- ERO1LB
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~67.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ERO1B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_019891.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 68 | 2 | 1 | 71 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 8 | 8 | ||||
| Total | 0 | 0 | 77 | 2 | 1 | 80 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_063944.3 | 16 | MANE Select | |
| Ensembl | ENSP00000346635.5 | 16 | MANE Select | |
| Ensembl | ENSP00000510551.1 | 12 | Standard | |
| Ensembl | ENSP00000510551.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Protein processing in endoplasmic reticulum - Homo sapiens (human)
- Peptide hormone metabolism
- Metabolism of proteins
- Insulin processing
Biological Process
- protein folding
- 4-hydroxyproline metabolic process
- protein maturation by protein folding
- insulin processing
- extracellular matrix organization
Molecular Function
- protein disulfide isomerase activity
- protein binding
- protein disulfide oxidoreductase activity
- oxidoreductase activity
- oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor
Cellular Component
- endoplasmic reticulum
- endoplasmic reticulum membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000354619
- Coding exons
- 16
- Length
- 66465
- Individuals with no LoFs
- 125681
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 66
- Defined
- 125747
- p
- 0.000262
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.911 | 198 | 238 | 0.834 | 0.0000123 | 3039 |
| Missense (PolyPhen) | 78 | 106.62 | 0.73156 | 1323 | ||
| Synonymous | -0.358 | 85 | 80.9 | 1.05 | 0.00000391 | 823 |
| Loss of Function | 2.22 | 19 | 32.7 | 0.581 | 0.00000185 | 396 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00033 | 0.00032 | rare |
| Ashkenazi Jewish | 0.00040 | 0.00040 | rare |
| East Asian | 0.00051 | 0.00049 | rare |
| Finnish | 0.000092 | 0.000092 | rare |
| European (Non-Finnish) | 0.00025 | 0.00025 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.00035 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis. {ECO:0000269|PubMed:11707400, ECO:0000269|PubMed:21091435}.;
Intolerance Scores
- RVIS EVS
- 0.75
- RVIS percentile EVS
- 86.65
Essentials
- Essential (gene trap)
- N