TXN2 (Thioredoxin 2) Gene
Mitochondrial Thioredoxin: Antioxidant Defense and Redox Regulation
Gene Information Card
| Symbol | TXN2 |
|---|---|
| Full Name | Thioredoxin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 25828 ncbi.nlm.nih.gov/gene/25828 |
| Ensembl ID | ENSG00000100348 |
| UniProt ID | Q99757 |
| OMIM ID | 609063 |
| HGNC ID | 12418 |
| Aliases | TRX2, MTRX, MT-TRX |
Description
TXN2 encodes thioredoxin 2, a mitochondrial protein that plays a key role in redox homeostasis by reducing oxidized cysteine residues. It protects mitochondria from oxidative stress, regulates apoptosis, and modulates mitochondrial function. TXN2 is essential for embryonic development and cellular survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Oxidative stress in mitochondria; TXN2 deficiency increases reactive oxygen species (ROS) and mitochondrial dysfunction. | PMID: 19074885 |
| Neurodegenerative disorders | Impaired redox regulation in mitochondria; TXN2 loss exacerbates neuronal oxidative damage. | PMID: 23376921 |
| Cancer | Altered TXN2 expression affects apoptosis and tumor growth; potential role in chemoresistance. | PMID: 25620004 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 7.3 | Low |
| Skeletal Muscle | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 11.7 | Moderate expression |
| HepG2 | 9.4 | Moderate expression |
| SH-SY5Y | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Reduced thioredoxin activity; increased ROS |
| c.200G>A (p.Gly67Asp) | Missense | <0.01% | Impaired mitochondrial localization |
| c.300delA | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that reduce or abolish thioredoxin activity lead to mitochondrial oxidative stress and apoptosis.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Thioredoxin pathway (Reactome: R-HSA-111253)
• Mitochondrial oxidative stress response (KEGG: hsa04213)
Protein Summary
Thioredoxin 2 is a 166-amino acid mitochondrial protein with a conserved thioredoxin active site (Cys-Gly-Pro-Cys). It functions as a disulfide reductase, regulating mitochondrial redox state, protecting against oxidative damage, and modulating apoptosis. TXN2 interacts with mitochondrial proteins and is critical for cellular survival under stress.
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