GPX7
protein-codingglutathione peroxidase 7
Gene summary
Enables catalase activity. Predicted to be involved in cellular response to oxidative stress. Located in endoplasmic reticulum. Implicated in Barrett's adenocarcinoma and Barrett's esophagus. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.7 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 GPX7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015696.5. 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 | 2 | 2 | ||||
| missense | 18 | 1 | 19 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 21 | 1 | 0 | 22 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_056511.2 | 3 | MANE Select | |
| Ensembl | ENSP00000354677.4 | 3 | MANE Select | |
| Ensembl | ENSP00000654300.1 | 1 | Standard | |
| Ensembl | ENSP00000679816.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Thyroid hormone synthesis - Homo sapiens (human)
- Glutathione metabolism - Homo sapiens (human)
- Arachidonic acid metabolism - Homo sapiens (human)
- One carbon metabolism and related pathways
- Detoxification of Reactive Oxygen Species
Biological Process
- cellular response to oxidative stress
- oxidation-reduction process
- cellular oxidant detoxification
Molecular Function
- catalase activity
- peroxidase activity
- glutathione peroxidase activity
- protein binding
Cellular Component
- extracellular region
- endoplasmic reticulum
- endoplasmic reticulum lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000361314
- Coding exons
- 3
- Length
- 6680
- Individuals with no LoFs
- 125605
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 142
- Defined
- 125748
- p
- 0.000569
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.184 | 96 | 101 | 0.949 | 0.00000555 | 1195 |
| Missense (PolyPhen) | 35 | 39.383 | 0.88871 | 470 | ||
| Synonymous | 0.840 | 37 | 44.1 | 0.839 | 0.00000252 | 373 |
| Loss of Function | 0.580 | 9 | 11.1 | 0.812 | 8.32e-7 | 85 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00012 | rare |
| Latino/Admixed American | 0.00020 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00015 | 0.00015 | rare |
| South Asian | 0.0036 | 0.0036 | notable |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: It protects esophageal epithelia from hydrogen peroxide- induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks. {ECO:0000269|PubMed:22157330}.;
Recessive Scores
- pRec
- 0.191
Intolerance Scores
- LoFtool
- 0.781
- RVIS EVS
- -0.05
- RVIS percentile EVS
- 49.76
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.949
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |