Version: 8.0.0
Date: Tue Jan 28 2025
SOD3
Homo sapiensHGNC:11181
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SOD3

Species
Homo sapiens
Symbol
SOD3
Name
superoxide dismutase 3
Synonyms
  • EC-SOD
  • extracellular superoxide dismutase
Biotype
protein coding gene
Automated Description
Enables molecular adaptor activity. Predicted to be involved in removal of superoxide radicals. Predicted to act upstream of or within response to hypoxia. Located in collagen-containing extracellular matrix. Implicated in several diseases, including coronary artery disease (multiple); diabetes mellitus (multiple); diabetic retinopathy; lung disease (multiple); and polyneuropathy. Biomarker of intermediate coronary syndrome and myocardial infarction.
RGD Description
This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10003
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SOD3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SOD3 role
            SOD3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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