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FLASH GENE
Symbol ACO2 contributors: mct - updated : 22-06-2022
HGNC name aconitase 2, mitochondrial
HGNC id 118
Corresponding disease
ICRD Infantile Cerebellar-Retinal Degeneration
OPA9 optic atrophy 9
Location 22q13.2      Physical location : 41.865.128 - 41.924.992
Synonym name
  • aconitate hydratase
  • citrate hydro-lyase
    • Synonym symbol(s) ACONM, MGC20605, MGC33908, aconitase, mACON, HEL-S-284, ICRD, OCA8, OPA9
    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
  • is involved in cellular metabolism through the tricarboxylic acid cycle
  • is involved in the energy generation and susceptible to increased oxidative stress that would lead to inactivation of its activity
    • 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
    tumoral       loss of function
    promotes colorectal cancer progression via SCD1-mediated lipid remodeling
    constitutional       loss of function
    is a key factor that could promote neurodegeneration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS