SOD2 Gene Summary [Human]
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | SOD2 |
| Official Name | superoxide dismutase 2 [Source:HGNC Symbol;Acc:HGNC:11180] |
| Ensembl ID | ENSG00000112096 |
| Bio databases IDs | |
| Aliases | superoxide dismutase 2, gastric cancer–associated lncRNA 1, manganese superoxide dismutase |
| Synonyms | GC1, GClnc1, IMAGE:4711494, IPO-B, lncRNA-GC1, MANGANESE DEPENDENT SOD, Manganese Superoxide Dismutase, Manganese Superoxide Dismutase 2, MGC5618, MITOCHONDRIAL SOD, MNSOD, Mn superoxide dismutase, MVCD6, SOD2X1, SOD2X2, Superoxide dismutase, superoxide dismutase 2, superoxide dismutase 2, mitochondrial |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- superoxide dismutase
- mitochondrial presequence
- oxygen binding
- Iron/manganese superoxide dismutases, alpha-hairpin domain
- Iron/manganese superoxide dismutases, C-terminal domain
- oxidoreductase
- enzyme binding
- enzyme
- protein binding
- manganese ion binding
- identical protein binding
- DNA binding
Pathways
Biological processes and signaling networks where the SOD2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- epithelial cancer
- cancer
- neoplasia
- metastasis
- COVID-19
- Duchenne muscular dystrophy
- leiomyoma
- leiomyomatosis
- septic cardiomyopathy
role in cell
- expression in
- differentiation
- phosphorylation in
- activation in
- proliferation
- cell death
- molecular cleavage in
- formation
- migration
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- nuclear fraction
- mitochondrial fraction
- perinuclear region
- cellular membrane
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial inner membrane
- nuclear bodies
- photoreceptor inner segments
- perivascular matrix
- peroxisomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hyperoxia
- post-embryonic development
- response to axon injury
- protein homotetramerization
- response to hypoxia
- regulation of mitochondrial membrane potential
- oxygen homeostasis
- response to electrical stimulus
- response to gamma radiation
- response to silicon dioxide
- induction of apoptosis by oxidative stress
- DNA damage response, signal transduction resulting in induction of apoptosis
- response to superoxide
- response to hydrogen peroxide
- vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure
- cellular response to ethanol
- superoxide metabolic process
- response to magnetism
- erythrophore differentiation
- removal of superoxide radicals
- release of cytochrome c from mitochondria
- response to selenium ion
- response to isolation stress
- response to immobilization stress
- response to activity
- positive regulation of cell migration
- response to manganese ion
- positive regulation of nitric oxide biosynthetic process
- multicellular organismal iron ion homeostasis
- response to zinc ion
- hemopoiesis
- negative regulation of cell proliferation
- respiratory electron transport chain
- detection of oxygen
- response to xenobiotic stimulus
- superoxide anion generation
- negative regulation of neuron apoptotic process
- heart development
- locomotory behavior
- negative regulation of fibroblast proliferation
- liver development
- response to L-ascorbic acid
- negative regulation of fat cell differentiation
- response to cadmium ion
- neuron development
- regulation of blood pressure
- regulation of transcription from RNA polymerase II promoter
- positive regulation of hydrogen peroxide biosynthetic process
- glutathione metabolic process
- cellular response to oxidative stress
- response to lipopolysaccharide
- hydrogen peroxide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrial matrix
- mitochondrion
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- oxygen binding
- DNA binding
- identical protein binding
- protein binding
- manganese ion binding
- superoxide dismutase activity
- enzyme binding