SOD2: Superoxide Dismutase 2, Mitochondrial
Key mitochondrial antioxidant enzyme involved in oxidative stress, aging, and disease
Gene Information Card
| Symbol | SOD2 |
|---|---|
| Full Name | Superoxide Dismutase 2, Mitochondrial |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 6648 ncbi.nlm.nih.gov/gene/6648 |
| Ensembl ID | ENSG00000112096 |
| UniProt ID | P04179 |
| OMIM ID | 147460 |
| HGNC ID | 11180 |
| Aliases | Mn-SOD, IPO-B, MNSOD, MVCD6 |
Description
SOD2 encodes the mitochondrial manganese-dependent superoxide dismutase (MnSOD), a key antioxidant enzyme that catalyzes the dismutation of superoxide radicals into hydrogen peroxide and molecular oxygen. It protects mitochondria from oxidative damage and is critical for cellular redox homeostasis. Dysregulation of SOD2 is implicated in cancer, neurodegenerative diseases, cardiovascular disorders, and aging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered SOD2 expression leads to mitochondrial oxidative stress, promoting genomic instability and tumor progression. | NCBI Gene, COSMIC |
| Idiopathic dilated cardiomyopathy | Reduced SOD2 activity increases mitochondrial ROS, contributing to cardiac dysfunction. | OMIM, ClinVar |
| Aging-related neurodegeneration | Impaired SOD2 function exacerbates oxidative damage in neurons, linked to Alzheimer's and Parkinson's disease. | UniProt, NCBI Gene |
| Mitochondrial complex I deficiency | SOD2 mutations may impair mitochondrial antioxidant capacity, worsening energy metabolism defects. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Heart | 22.3 | High |
| Kidney | 19.8 | High |
| Brain | 15.2 | Medium |
| Lung | 12.1 | Medium |
| Skeletal Muscle | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 30.1 | Hepatocellular carcinoma line |
| K-562 | 25.7 | Chronic myeloid leukemia line |
| HeLa | 22.4 | Cervical adenocarcinoma line |
| A549 | 18.9 | Lung carcinoma line |
| SH-SY5Y | 14.6 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4880 (Val16Ala) | SNP | Common (allele frequency ~0.5) | Alters mitochondrial targeting efficiency; associated with altered oxidative stress response and cancer risk. |
| c.47T>C (p.Leu16Pro) | Missense | Rare | Reported in ClinVar; potential impact on protein stability and enzyme activity. |
| c.574C>T (p.Arg192Cys) | Missense | Rare | ClinVar; uncertain significance, may affect catalytic function. |
Mutation functional classification
Loss of Function (LOF)
rs4880 (Val16Ala) may reduce mitochondrial import efficiency, leading to decreased MnSOD activity and increased oxidative stress.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in SOD2.
Dominant Negative (DN)
No dominant-negative mutations described for SOD2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Superoxide radical degradation (Reactome: R-HSA-329968)
• Cellular responses to stress (Reactome: R-HSA-2262752)
• Oxidative stress and redox regulation (KEGG: hsa04216)
Protein Summary
SOD2 (MnSOD) is a homotetrameric mitochondrial enzyme that converts superoxide anions to hydrogen peroxide. It contains a manganese cofactor and is essential for mitochondrial antioxidant defense. The protein is synthesized in the cytosol and imported into the mitochondrial matrix. Post-translational modifications include acetylation and phosphorylation, which regulate its activity. SOD2 expression is induced by oxidative stress via transcription factors such as FOXO3 and NF-κB.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Sod2 (p.K114R) Point Mutation in HAPI Cell Line | EDC03016 | Mouse | 24787 | Details Get a Quote |
