|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
Aconitase 2
Citrate hydro-lyase
|
|
gptkbp:associatedWith
|
mitochondrial aconitase deficiency
|
|
gptkbp:biologicalProcess
|
cellular respiration
tricarboxylic acid cycle
|
|
gptkbp:cofactor
|
iron-sulfur cluster
|
|
gptkbp:encodes
|
aconitase 2, mitochondrial
|
|
gptkbp:Entrez_Gene_ID
|
50
ENSG00000100412
|
|
gptkbp:enzymeCommissionNumber
|
4.2.1.3
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
brain
heart
liver
various tissues, especially high in heart and skeletal muscle
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:function
|
aconitate hydratase activity
catalyzes the isomerization of citrate to isocitrate in the TCA cycle
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_001098.3
NM_001242882.2
|
|
gptkbp:HGNC_ID
|
HGNC:119
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACO2
|
|
gptkbp:locatedOnChromosome
|
gptkb:22q13.2
|
|
gptkbp:location
|
mitochondrial matrix
|
|
gptkbp:molecularWeight
|
~82 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:encephalopathy
optic atrophy
|
|
gptkbp:numberOfExons
|
19
|
|
gptkbp:OMIM
|
100850
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Drosophila_melanogaster
gptkb:Arabidopsis_thaliana
Mus musculus (mouse)
Rattus norvegicus (rat)
Saccharomyces cerevisiae (yeast)
|
|
gptkbp:partOf
|
tricarboxylic acid cycle
|
|
gptkbp:PDB
|
2B3X
2B3Y
|
|
gptkbp:product
|
Aconitase 2, mitochondrial
|
|
gptkbp:proteinFamily
|
aconitase family
|
|
gptkbp:RefSeq
|
NM_001098
|
|
gptkbp:regulates
|
sensitive to oxidative stress
|
|
gptkbp:subcellularLocation
|
mitochondrion
|
|
gptkbp:UniProtID
|
gptkb:Q99798
|
|
gptkbp:bfsParent
|
gptkb:Aconitase
|
|
gptkbp:bfsLayer
|
7
|