SOD3: Superoxide Dismutase 3, Extracellular
Key antioxidant enzyme in extracellular spaces, linked to cardiovascular and pulmonary diseases
Gene Information Card
| Symbol | SOD3 |
|---|---|
| Full Name | Superoxide Dismutase 3, Extracellular |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 6649 ncbi.nlm.nih.gov/gene/6649 |
| Ensembl ID | ENSG00000109610 |
| UniProt ID | P08294 |
| OMIM ID | 185490 |
| HGNC ID | 11182 |
| Aliases | EC-SOD, MGC20077 |
Description
SOD3 encodes the extracellular superoxide dismutase (EC-SOD), a copper- and zinc-containing enzyme that catalyzes the dismutation of superoxide radicals into hydrogen peroxide and oxygen. It is the major antioxidant enzyme in extracellular fluids and tissues, protecting against oxidative damage. The gene is located on chromosome 4p15.2 and is expressed in various tissues, with highest levels in blood vessels, lungs, and kidneys.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Obstructive Pulmonary Disease (COPD) | Reduced SOD3 activity leads to increased oxidative stress in lung tissue, contributing to airway inflammation and emphysema. | NCBI Gene, OMIM |
| Atherosclerosis | Loss of SOD3 function promotes endothelial dysfunction and vascular oxidative stress, accelerating plaque formation. | NCBI Gene, OMIM |
| Diabetic Nephropathy | Decreased SOD3 expression in kidney tissues exacerbates oxidative damage and fibrosis. | NCBI Gene |
| Idiopathic Pulmonary Fibrosis | Impaired SOD3-mediated antioxidant defense contributes to lung fibrosis. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Artery | 15.3 | Medium |
| Kidney | 10.8 | Medium |
| Heart | 8.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.0 | High expression in vascular endothelial cells |
| A549 (lung epithelial) | 14.5 | Moderate expression |
| HEK293 (embryonic kidney) | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R213G | Missense | 1-2% in general population | Reduced heparin-binding affinity, decreased tissue retention, increased plasma levels; associated with increased risk of cardiovascular disease. |
| A40T | Missense | <0.1% | Unknown functional effect; rare variant. |
| c.574C>T (p.R192*) | Nonsense | <0.01% | Premature stop codon, loss of function; likely pathogenic. |
Mutation functional classification
Loss of Function (LOF)
R213G reduces tissue binding and antioxidant protection; R192* truncates protein.
Gain of Function (GOF)
Not reported for SOD3.
Dominant Negative (DN)
Not reported for SOD3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Superoxide Radical Degradation (Reactome: R-HSA-329968)
• Oxidative Stress Response (KEGG: hsa05016)
Protein Summary
The SOD3 protein (EC-SOD) is a homotetrameric glycoprotein of 240 amino acids (mature form). It contains a signal peptide for secretion, a copper/zinc-binding domain for catalytic activity, and a heparin-binding domain that anchors it to extracellular matrix and cell surfaces. It is the primary scavenger of superoxide in extracellular spaces, protecting tissues from oxidative injury. The protein is highly expressed in blood vessels, lungs, and kidneys.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOD3 Knockout HEK293 Cell Line | EDJ-KQ5073 | Human | 6649 | Details Get a Quote |
| SOD3 Knockout HeLa Cell Line | EDJ-KQ54534 | Human | 6649 | Details Get a Quote |
| SOD3 Knockout A-549 Cell Line | EDJ-KQ63019 | Human | 6649 | Details Get a Quote |
| SOD3 Knockout HCT 116 Cell Line | EDJ-KQ71494 | Human | 6649 | Details Get a Quote |
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