GPX7

Chr 1

glutathione peroxidase 7

Also known as: CL683, GPX6, GPx-7, GSHPx-7, NPGPx

NCBI Gene: 2882ENSG00000116157UniProt: Q96SL4OMIM: 615784

This protein functions as a catalase that protects esophageal epithelial cells from hydrogen peroxide-induced oxidative stress and suppresses acidic bile acid-induced reactive oxygen species. Mutations in GPX7 are implicated in Barrett's esophagus and Barrett's adenocarcinoma. The gene shows low constraint to loss-of-function variants, suggesting tolerance to such mutations.

OMIMResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.41
Clinical Summary— GPX7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
8 unique Pathogenic / Likely Pathogenic· 19 VUS of 38 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.41LOEUF
pLI 0.000
Z-score 0.58
OE 0.81 (0.49–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.18Z-score
OE missense 0.95 (0.80–1.12)
96 obs / 101.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.81 (0.49–1.41)
0≤0.351.4
Missense OE0.95 (0.80–1.12)
0≤0.61.4
Synonymous OE0.84
0≤1.21.6
LoF obs/exp: 9 / 11.1Missense obs/exp: 96 / 101.2Syn Z: 0.84
DN
0.74top 25%
GOF
0.73top 25%
LOF
0.2288th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS19
Likely Benign2
6
Pathogenic
2
Likely Pathogenic
19
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
2
0
2
VUS
0
17
2
0
19
Likely Benign
0
1
1
0
2
Benign
0
0
0
0
0
Total01811029

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GPX7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Full-length recombinant antibodies from Escherichia coli: production, characterization, effector function (Fc) engineering, and clinical evaluation.
Rashid MH·MAbs
2022Review
ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives.
Waqas SF et al.·Clin Transl Med
2022
Signature Construction and Disulfidptosis-Related Molecular Cluster Identification for Better Prediction of Prognosis in Glioma.
Zhuang Y et al.·J Mol Neurosci
2024
[Expression of Glutathione Peroxidases and Its Effect on Clinical Prognosis in Glioma Patients].
Ren XM et al.·Zhongguo Yi Xue Ke Xue Yuan Xue Bao
2022Cohort
MAP4K4/JNK Signaling Pathway Stimulates Proliferation and Suppresses Apoptosis of Human Spermatogonial Stem Cells and Lower Level of MAP4K4 Is Associated with Male Infertility.
Wan C et al.·Cells
2022
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Blue honeysuckle (Lonicera caerulea L.)-anthocyanins and cyanidin-3-O-glucoside protect dopaminergic neurons against ferroptosis by activating the Nrf2-GPX7 axis.
Li XN et al.·Free Radic Biol Med
2025
Multi-Omics and Experimental Validation Identify GPX7 and Glutathione-Associated Oxidative Stress as Potential Biomarkers in Ischemic Stroke.
Li T et al.·Antioxidants (Basel)
2025Open Access
Metformin's mechanism in reducing oxidative stress and promoting bone regeneration in T2DM rat BMMSCs: A focus on NRF2-GPX7 signaling pathway.
Dong K et al.·J Dent
2025Functional
Co-Exposure to Different Zinc Concentrations and High-Fat Diet Modules Endoplasmic Reticulum Stress and Lipotoxicity through the MTF-1/GPx7 Axis in Yellow Catfish (Pelteobagrus fulvidraco).
Xiao F et al.·J Agric Food Chem
2025
Computational Mutagenesis of GPx7 and GPx8: Structural and Stability Insights into Rare Genetic and Somatic Missense Mutations and Their Implications for Cancer Development.
Sobitan A et al.·Cancers (Basel)
2024Open Access
Top 5 resultsSearch Europe PMC ↗

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