SOD3 (superoxide dismutase 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6649
Gene name Gene Name - the full gene name approved by the HGNC.
Superoxide dismutase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOD3
Synonyms (NCBI Gene) Gene synonyms aliases
EC-SOD
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0004784 Function Superoxide dismutase activity IBA 21873635
GO:0005507 Function Copper ion binding IBA 21873635
GO:0005515 Function Protein binding IPI 15528465, 25416956, 32296183
GO:0005576 Component Extracellular region HDA 27068509
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
185490 11181 ENSG00000109610
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 17392825
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 16081686
Hypertension Hypertensive disease rs13306026 16864745, 17023265
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)		 15298984
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 16467073, 16399992 ClinVar
Congestive heart failure Congestive heart failure 20304815 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 20304815 ClinVar
Myocardial infarction Myocardial Failure 20304815 ClinVar
Show/Hide Text Mining Associations (72)
Associations from Text Mining
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