hsa:6647

GPTKB entity

Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:Mn-SOD
gptkb:IPO-B
gptkb:MNSOD
gptkb:SODM
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:cancer
amyotrophic lateral sclerosis
cardiomyopathy
gptkbp:clinicalTrialPhase SOD2 polymorphism and disease risk
gptkbp:cofactor manganese
gptkbp:component mitochondrion
gptkbp:discoveredIn 1975
gptkbp:Entrez_Gene_ID gptkb:ENSG00000112096
gptkb:rs4880
6647
gptkbp:enzymeCommissionNumber 1.15.1.1
gptkbp:fullName gptkb:superoxide_dismutase_2
gptkbp:function catalyzes dismutation of superoxide radicals
gptkbp:gene gptkb:SOD2
gptkbp:geneType protein-coding
gptkbp:GOMolecularFunction superoxide dismutase activity
gptkbp:GOProcess cellular response to reactive oxygen species
response to oxidative stress
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID gptkb:HGNC:11179
https://www.w3.org/2000/01/rdf-schema#label hsa:6647
gptkbp:length 222 amino acids
gptkbp:locatedOnChromosome 6
6q25.3
gptkbp:molecularWeight 24.7 kDa
gptkbp:mutationAssociatedWith mutations can cause mitochondrial dysfunction
gptkbp:OMIM 147460
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse gptkb:Sod2
gptkbp:pathway oxidative phosphorylation
reactive oxygen species degradation
gptkbp:PDB gptkb:1LUV
gptkb:1N0J
1AP5
gptkbp:product gptkb:mitochondrial_superoxide_dismutase
gptkbp:promotion TATA-less
gptkbp:proteinFamily gptkb:superoxide_dismutase_family
gptkbp:regulates induced by oxidative stress
regulated by NF-kB
gptkbp:subcellularLocation mitochondrial matrix
gptkbp:tissue_specificity ubiquitous
gptkbp:UniProtID P04179
gptkbp:bfsParent gptkb:SOD1
gptkbp:bfsLayer 5