Gene Gene information from NCBI Gene database.
Entrez ID 6648
Gene name Superoxide dismutase 2
Gene symbol SOD2
Synonyms (NCBI Gene)
GC1GClnc1IPO-BIPOBMNSODMVCD6Mn-SODlncRNA-GC1
Chromosome 6
Chromosome location 6q25.3
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs4880 A>G Drug-response, risk-factor, benign Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1369
miRTarBase ID miRNA Experiments Reference
MIRT000993 hsa-miR-377-3p Luciferase reporter assayWestern blot 18716028
MIRT000135 hsa-miR-222-3p FlowLuciferase reporter assayMicroarrayqRT-PCRWestern blot 19487542
MIRT005745 hsa-miR-17-3p Luciferase reporter assayQuantitative proteomic approachWestern blot 21203553
MIRT028409 hsa-miR-30a-5p Proteomics 18668040
MIRT043729 hsa-miR-342-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
DDB2 Repression 18431487
FOXO4 Activation 21536589
JUN Unknown 15330761
NFE2L2 Activation 22493435
NFKB1 Activation 11880364;14515147;19507253
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
101
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IEA
GO:0000303 Process Response to superoxide IEA
GO:0000303 Process Response to superoxide IMP 16179351
GO:0001666 Process Response to hypoxia IEA
GO:0001836 Process Release of cytochrome c from mitochondria IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147460 11180 ENSG00000291237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04179
Protein name Superoxide dismutase [Mn], mitochondrial (EC 1.15.1.1)
Protein function Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
PDB 1AP5 , 1AP6 , 1EM1 , 1JA8 , 1LUV , 1LUW , 1MSD , 1N0J , 1N0N , 1PL4 , 1PM9 , 1QNM , 1SZX , 1VAR , 1XDC , 1XIL , 1ZSP , 1ZTE , 1ZUQ , 2ADP , 2ADQ , 2GDS , 2P4K , 2QKA , 2QKC , 3C3S , 3C3T , 5GXO , 5T30 , 5VF9 , 7KKS , 7KKU , 7KKW , 7KLB , 8SKS , 8VHW , 8VHY , 8VJ0 , 8VJ4 , 8VJ5 , 8VJ8 , 9BVY , 9BW2 , 9BWM , 9BWQ , 9BWR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00081 Sod_Fe_N 25 106 Iron/manganese superoxide dismutases, alpha-hairpin domain Domain
PF02777 Sod_Fe_C 113 216 Iron/manganese superoxide dismutases, C-terminal domain Domain
Sequence
Sequence length 222
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Peroxisome
Longevity regulating pathway
Longevity regulating pathway - multiple species
Huntington disease
Chemical carcinogenesis - reactive oxygen species
Lipid and atherosclerosis
  Transcriptional activation of mitochondrial biogenesis
Detoxification of Reactive Oxygen Species
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
157
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 18790709
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 18682580
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 29046499 Associate
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis CTD_human_DG 19917352
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27019981
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12032830, 18582155
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 12907644
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15534883, 21725155, 24677319, 29693699, 29774090
★☆☆☆☆
Found in Text Mining only