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FLASH GENE
Symbol ACO2 contributors: mct - updated : 15-03-2013
HGNC name aconitase 2, mitochondrial
HGNC id 118
Corresponding disease
ICRD Infantile Cerebellar-Retinal Degeneration
OPA9 optic atrophy 9
Location 22q13.1      Physical location : 41.865.128 - 41.924.992
Synonym name
  • aconitate hydratase
  • citrate hydro-lyase
  • Synonym symbol(s) ACONM, MGC20605, MGC33908, aconitase, mACON
    EC.number 4.2.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 59.86 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • promoter is contained in a 153-bp 5prime fragment lacking a TATA or CAAT sequence and Sp1 binding to a specific Sp1 site is required for promoter activity while other transcription factors are recruited through protein-protein interactions
  • two putative TP53 response elements were identified within the promoter
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text multiple isoforms of the protein (Mirel)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2744 - 780 - 1998 9630632
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated MetalloP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Aco2
    ortholog to rattus aco2
    Homologene
    FAMILY aconitase/IPM isomerase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    basic FUNCTION
  • involved in the second step of citric acid cycle
  • plays an important role in the unique pathway of citrate accumulation in prostate epithelial cells through its limited activity
  • key enzyme in citrate oxidation in prostate epithelial cells, and its abnormal expression has been implicated in tumorigenesis of the prostate
  • role for OGG1 and ACO2 in preserving alveolar epithelial cell (AEC) mtDNA integrity, thereby preventing oxidant-induced mitochondrial dysfunction, TP53 mitochondrial translocation, and intrinsic apoptosis
  • ACO1 and ACO2 are iron-sulfur proteins and both catalyse conversion of citrate to isocitrate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text iron homeostasis
    PATHWAY
    metabolism carbohydrate , energetic
    signaling
  • citric acid cycle
  • a component
  • iron sulfur protein
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FXN is an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation
  • interacting with TP53 (TP53 downregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells)
  • cell & other
    REGULATION
    Other regulation of mitochondrial aconitase activity by PKC-dependent phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) ICRD , OPA9
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    Friedreich ataxia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS