|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:Mn-SOD
gptkb:IPO-B
gptkb:MNSOD
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
amyotrophic lateral sclerosis
idiopathic cardiomyopathy
|
|
gptkbp:biologicalProcess
|
response to oxidative stress
superoxide dismutase activity
|
|
gptkbp:cellularComponent
|
mitochondrial matrix
|
|
gptkbp:clinicalTrialPhase
|
genetic testing available
|
|
gptkbp:conservedIn
|
mammals
vertebrates
|
|
gptkbp:discoveredIn
|
1980s
|
|
gptkbp:encodes
|
gptkb:superoxide_dismutase_[Mn],_mitochondrial
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000112096
6648
|
|
gptkbp:essentialGene
|
yes
|
|
gptkbp:expressedIn
|
ubiquitous, highest in heart, liver, kidney
|
|
gptkbp:fullName
|
gptkb:superoxide_dismutase_2,_mitochondrial
|
|
gptkbp:function
|
catalyzes the dismutation of superoxide radicals to hydrogen peroxide and oxygen
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:11180
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOD2 gene
|
|
gptkbp:interactsWith
|
gptkb:FOXO3
gptkb:SIRT3
gptkb:p53
|
|
gptkbp:length
|
222 amino acids
5 exons
|
|
gptkbp:locatedOnChromosome
|
6
6q25.3
|
|
gptkbp:mutationAssociatedWith
|
mutations can cause mitochondrial dysfunction
|
|
gptkbp:OMIM
|
147460
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Sod2
|
|
gptkbp:pathway
|
antioxidant defense
reactive oxygen species detoxification
|
|
gptkbp:PDB
|
gptkb:1LUV
|
|
gptkbp:proteinFamily
|
gptkb:iron/manganese_superoxide_dismutase_family
|
|
gptkbp:RefSeq
|
gptkb:NM_000636
NP_000627
|
|
gptkbp:regulates
|
upregulated by oxidative stress
regulated by NF-κB
|
|
gptkbp:significance
|
polymorphisms associated with cancer risk
mutations associated with neurodegenerative diseases
|
|
gptkbp:subcellularLocation
|
mitochondrion
|
|
gptkbp:UniProtID
|
P04179
|
|
gptkbp:bfsParent
|
gptkb:mitochondrial_superoxide_dismutase
|
|
gptkbp:bfsLayer
|
7
|