GPX3: Glutathione Peroxidase 3 – Antioxidant Enzyme and Disease Implications
Comprehensive gene card for GPX3, including genomic data, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | GPX3 |
|---|---|
| Full Name | Glutathione Peroxidase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 2878 ncbi.nlm.nih.gov/gene/2878 |
| Ensembl ID | ENSG00000121022 |
| UniProt ID | P22352 |
| OMIM ID | 138321 |
| HGNC ID | 4555 |
| Aliases | GPx-P, GSHPx-3, GPX3P |
Description
GPX3 (Glutathione Peroxidase 3) is a protein-coding gene that encodes a selenium-dependent glutathione peroxidase. This enzyme is a major antioxidant in plasma and extracellular fluids, catalyzing the reduction of hydrogen peroxide and organic hydroperoxides using glutathione as a cofactor. GPX3 protects cells from oxidative damage and is implicated in various physiological and pathological processes, including cardiovascular disease, cancer, and thrombosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Reduced GPX3 activity leads to increased oxidative stress and endothelial dysfunction, promoting atherosclerosis. | ClinVar, NCBI |
| Cancer (e.g., colorectal, prostate) | Hypermethylation of GPX3 promoter reduces expression, impairing antioxidant defense and facilitating tumor progression. | COSMIC, NCBI |
| Arterial thrombosis | GPX3 deficiency enhances platelet activation and thrombus formation due to impaired peroxide detoxification. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Liver | 28.7 | Medium |
| Plasma | 0.0 | Not applicable (secreted) |
| Heart | 12.3 | Low |
| Lung | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.1 | High expression in kidney-derived line |
| HepG2 | 25.4 | Liver cancer cell line |
| MCF7 | 5.2 | Breast cancer cell line, low expression |
| A549 | 7.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.593G>A (p.Arg198Gln) | Missense | 0.01% | Reduced enzyme activity |
| c.112C>T (p.Arg38Cys) | Missense | 0.005% | Impaired selenium incorporation |
| c.1A>G (p.Met1Val) | Start loss | 0.002% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg198Gln) reduce catalytic activity; start loss mutation abolishes translation.
Gain of Function (GOF)
No gain-of-function mutations reported in GPX3.
Dominant Negative (DN)
No dominant-negative mutations described for GPX3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Detoxification of Reactive Oxygen Species (Reactome: R-HSA-3299685)
Protein Summary
GPX3 is a 226-amino acid selenoprotein containing a selenocysteine residue at the active site. It functions as a homotetramer in plasma, reducing hydroperoxides to protect cells and tissues from oxidative damage. The protein is primarily secreted by the kidney and liver, and its expression is regulated by selenium availability and epigenetic mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPX3 Knockout HEK293 Cell Line | EDJ-KQ4787 | Human | 2878 | Details Get a Quote |
| GPX3 Knockout A-549 Cell Line | EDJ-KQ27548 | Human | 2878 | Details Get a Quote |
| GPX3 Knockout HCT 116 Cell Line | EDJ-KQ27549 | Human | 2878 | Details Get a Quote |
| GPX3 Knockout HeLa Cell Line | EDJ-KQ27550 | Human | 2878 | Details Get a Quote |
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