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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]
SOD2 (Superoxide Dismutase 2) is a Protein Coding gene. Diseases associated with SOD2 include Microvascular Complications Of Diabetes 6 and Gastric Cancer. Among its related pathways are Folate Metabolism and Neurodegenerative Diseases. Gene Ontology (GO) annotations related to this gene include identical protein binding and oxygen binding. An important paralog of this gene is ENSG00000285441.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004784 | superoxide dismutase activity | IEA,IDA | 12551919 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0030145 | manganese ion binding | IBA,TAS | 10511315 |
GO:0042802 | identical protein binding | IPI | 19822147 |
GO:0046872 | metal ion binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | 12551919 |
GO:0005759 | mitochondrial matrix | TAS | 10511315 |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Folate Metabolism | ||
2 | Longevity regulating pathway | ||
3 | Neurodegenerative Diseases | ||
4 | Detoxification of Reactive Oxygen Species | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000303 | response to superoxide | IMP | 16179351 |
GO:0001315 | age-dependent response to reactive oxygen species | IMP | 14980699 |
GO:0001836 | release of cytochrome c from mitochondria | ISS | -- |
GO:0003069 | acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure | ISS | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 9393747 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Methotrexate | Approved | Pharma | Folate antagonist,inhibits DFHR | 1825 | ||
Paclitaxel | Approved, Vet_approved | Pharma | Tubulin and Bcl2 inhibitor, Taxanes | 3701 | ||
Copper | Approved, Investigational | Pharma | 249 | |||
Iron | Approved, Experimental | Pharma | 1560 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOD2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOD2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOD2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SOD2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sod2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sod2 30 |
|
||
Chicken (Gallus gallus) |
Aves | SOD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sod2 30 |
|
||
Str.15249 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23883 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sod2 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13830 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | MNSOD1 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sod2 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | sod-2 30 31 32 |
|
OneToMany | |
sod-3 31 32 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR160W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E03609g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SOD2 30 31 33 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MSD1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7748 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0323900 30 |
|
||
Os.4610 30 |
|
||||
Corn (Zea mays) |
Liliopsida | Zm.1987 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2788 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09560 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1486.01 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2423 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
736650 | Benign: not provided | 159,692,671(-) | C/T | SYNONYMOUS_VARIANT | |
750409 | Benign: not provided | 159,682,583(-) | A/G | SYNONYMOUS_VARIANT | |
rs4880 | Drug Response: SUPEROXIDE DISMUTASE 2 POLYMORPHISM; Microvascular complications of diabetes 6; cyclophosphamide response - Efficacy. - | 159,692,840(-) | A/Gp.Val16Ala | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1141718 | - | p.Ile82Thr | |||
rs4987023 | - | p.Gly76Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759483 | CNV | gain | 17122850 |
esv33081 | CNV | gain | 17666407 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microvascular complications of diabetes 6 |
|
|
gastric cancer |
|
|
ischemia |
|
|
diabetic neuropathy |
|
|
extrinsic allergic alveolitis |
|