SOD3 (superoxide dismutase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6649
Gene name Superoxide dismutase 3
Gene symbol SOD3
Synonyms (NCBI Gene)
EC-SOD
Chromosome 4
Chromosome location 4p15.2
Summary 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 oxi
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs1799895 C>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT006997 hsa-miR-21-5p miRGen" 22836756
MIRT1379228 hsa-miR-1193 CLIP-seq
MIRT1379229 hsa-miR-193a-5p CLIP-seq
MIRT1379230 hsa-miR-2392 CLIP-seq
MIRT1379231 hsa-miR-3202 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0004784 Function Superoxide dismutase activity IBA
GO:0004784 Function Superoxide dismutase activity IEA
GO:0004784 Function Superoxide dismutase activity TAS 8034674
GO:0005507 Function Copper ion binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
185490 11181 ENSG00000109610
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08294
Protein name Extracellular superoxide dismutase [Cu-Zn] (EC-SOD) (EC 1.15.1.1)
Protein function Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen.
PDB 2JLP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00080 Sod_Cu 72 → 210 Copper/zinc superoxide dismutase (SODC) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in blood vessels, heart, lung, kidney and placenta. Major SOD isoenzyme in extracellular fluids such as plasma, lymph and synovial fluid.
Sequence 
MLALLCSCLLLAAGASDAWTGEDSAEPNSDSAEWIRDMYAKVTEIWQEVMQRRDDDGALH
AACQVQPSATLDAAQPRVTGVVLFRQLAPRAKLDAFFALEGFPTEPNSSSRAIHVHQFGD
LSQGCESTGPHYNPLAVPHPQHPGDFGNFAVRDGSLWRYRAGLAASLAGPHSIVGRAVVV
HAGEDDLGRGGNQASVENGNAGRRLACCVVGVCGPGLWERQAREHSERKKRRRESECKAA
Sequence length 240
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Detoxification of Reactive Oxygen Species
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SOD3-related disorder Benign; Likely benign rs1799895, rs2536512, rs373731075, rs8192291, rs144089452, rs536277640, rs141224088, rs17879876 RCV003924831
RCV003982346
RCV003979408
RCV003984590
RCV003917102
RCV003934234
RCV003930677
RCV003930497
Superoxide dismutase, elevated extracellular Benign rs1799895 RCV000013615
Show/Hide Text Mining Associations (72)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 18948423
Adenocarcinoma Inhibit 22064654
Adenocarcinoma of Lung Associate 36524120
Alzheimer Disease Associate 28005991
Arthritis Associate 17015957
Arthritis Rheumatoid Associate 23049851
Asbestosis Associate 19636420
Asthma Stimulate 14760150
Atherosclerosis Associate 19958400
Bicuspid Aortic Valve Disease Associate 28185644