ACO2 (aconitase 2)

2007-02-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
ACONM,HEL-S-284,ICRD,OCA8,OPA9
FUSION GENES

Other Information

Locus ID:

NCBI: 50
MIM: 100850
HGNC: 118
Ensembl: ENSG00000100412

Variants:

dbSNP: 50
ClinVar: 50
TCGA: ENSG00000100412
COSMIC: ACO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100412ENST00000216254Q99798
ENSG00000100412ENST00000396512A2A274

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Glyoxylate and dicarboxylate metabolismKEGGko00630
Citrate cycle (TCA cycle)KEGGhsa00020
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121984912002Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.171
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
195246652009Role of mitochondrial hOGG1 and aconitase in oxidant-induced lung epithelial cell apoptosis.37
244292872014Mitochondria-targeted Ogg1 and aconitase-2 prevent oxidant-induced mitochondrial DNA damage in alveolar epithelial cells.35
253519512014Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.25
224050872012Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
235502752013Decreased expression of the mitochondrial metabolic enzyme aconitase (ACO2) is associated with poor prognosis in gastric cancer.15
237097472013Hypoxia upregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells.13

Citation

Dessen P

ACO2 (aconitase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46419/aco2-(aconitase-2)