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ACO2 Gene

protein-coding   GIFtS: 67
GCID: GC22P041865

Aconitase 2, Mitochondrial

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aconitase 2, Mitochondrial1 2     mitochondrial1
Citrate Hydro-Lyase2 3     ACONM2
EC 4.2.1.33 8     Aconitate Hydratase, Mitochondrial2
ICRD2 5     Aconitase3
Aconitate Hydratase1     EC 4.2.18

External Ids:    HGNC: 1181   Entrez Gene: 502   Ensembl: ENSG000001004127   OMIM: 1008505   UniProtKB: Q997983   

Export aliases for ACO2 gene to outside databases

Previous GC identifers: GC22P038479 GC22P040108 GC22P040189 GC22P024830


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACO2 Gene:
The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the
interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is
encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix
proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after
oxidative modification. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACO2 Gene:
ACO2 (aconitase 2, mitochondrial) is a protein-coding gene. Diseases associated with ACO2 include infantile cerebellar-retinal degeneration, and ornithine translocase deficiency. GO annotations related to this gene include aconitate hydratase activity and iron ion binding.

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798
Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACO2 gene promoter:
         AhR   GR   RFX1   C/EBPbeta   AML1a   STAT5A   PPAR-gamma1   POU2F1   GR-alpha   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACO2 promoter sequence
   Search Chromatin IP Primers for ACO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACO2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

ACO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACO2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P041865:  view genomic region     (about GC identifiers)

Start:
41,865,129 bp from pter      End:
41,924,993 bp from pter
Size:
59,865 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798 (See protein sequence)
Recommended Name: Aconitate hydratase, mitochondrial precursor  
Size: 780 amino acids; 85425 Da
Cofactor: Binds 1 4Fe-4S cluster per subunit. Binding of a 3Fe-4S cluster leads to an inactive enzyme (By
similarity)
Subunit: Monomer (By similarity)
Secondary accessions: O75809 Q5JZ41 Q6FHX0 Q8TAQ6

Explore the universe of human proteins at neXtProt for ACO2: NX_Q99798

Explore proteomics data for ACO2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACO2 (Q99798) (see all 30)
     SYNRNFT  GSSREHA  YGHLDDP  VIGVKLTG 


    See ACO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001089.1  
    ENSEMBL proteins: 
     ENSP00000216254   ENSP00000379769  
    Reactome Protein details: Q99798

    ACO2 Human Recombinant Protein Products:

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    Novus Biologicals ACO2 Proteins
    Novus Biologicals ACO2 Lysates
    Sino Biological Recombinant Protein for ACO2
    Sino Biological Cell Lysate for ACO2
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    Cloud-Clone Corp. Proteins for ACO2

    ACO2 Antibody Products:

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    ACO2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACO2
    Cloud-Clone Corp. CLIAs for ACO2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR000573 AconitaseA/IPMdHydase_ssu_swvl
     IPR015932 Aconitase/IPMdHydase_lsu_aba_2
     IPR015937 Acoase/IPM_deHydtase
     IPR001030 Acoase/IPM_deHydtase_lsu_aba
     IPR018136 Aconitase_4Fe-4S_BS

    Graphical View of Domain Structure for InterPro Entry Q99798

    ProtoNet protein and cluster: Q99798

    2 Blocks protein domains:
    IPB000573 Aconitate hydratase
    IPB001030 Aconitate hydratase


    UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798
    Similarity: Belongs to the aconitase/IPM isomerase family


    ACO2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACON_HUMAN, Q99798
    Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)
    Catalytic activity: Citrate = isocitrate

         Genatlas biochemistry entry for ACO2:
    aconitase 2,iron sulfur protein,catalyzing the mitochondrial,second step of citric acid cycle,ubiquitously
    expressed,including multiple isoforms

         Enzyme Numbers (IUBMB): EC 4.2.1.31 2 EC 4.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003994aconitate hydratase activity IEA--
    GO:0005506iron ion binding IDA9630632
    GO:0005515protein binding ----
    GO:00515383 iron, 4 sulfur cluster binding IEA--
    GO:00515394 iron, 4 sulfur cluster binding IEA--
         
    ACO2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Aco2):
     no phenotypic analysis 

    ACO2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACO2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACO2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACO2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACO2

    miRNA
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    Block miRNA regulation of human, mouse, rat ACO2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate ACO2:
    hsa-miR-203 hsa-miR-502-5p hsa-miR-3613-3p hsa-miR-500a hsa-miR-3157-5p hsa-miR-4294
    SwitchGear 3'UTR luciferase reporter plasmidACO2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACO2
    Predesigned siRNA for gene silencing in human, mouse, rat ACO2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACO2

    Clone
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    OriGene clones in human, mouse for ACO2 (see all 6)
    OriGene ORF clones in mouse, rat for ACO2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACO2 (NM_001098)
    Sino Biological Human cDNA Clone for ACO2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACO2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACO2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ACO2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACO2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACON_HUMAN, Q99798: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus4
    cytosol2
    chloroplast1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    ACO2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACO2 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    TCA cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ACO2
        Glucose / Energy Metabolism

    3 BioSystems Pathways for ACO2
        TCA Cycle
    TCA cycle
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    2 Reactome Pathways for ACO2
        Mitochondrial protein import
    Citric acid cycle (TCA cycle)


    Selected Kegg Pathways  (Kegg details for ACO2) (see all 6):
        Citrate cycle (TCA cycle)
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism

    UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2


    ACO2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACO2: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACO2 (Q997982, 3 ENSP000002162544) via UniProtKB, MINT, STRING, and/or I2D (see all 314)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS9630632
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006101citrate metabolic process IDA9630632
    GO:0006102isocitrate metabolic process IEA--
    GO:0008152metabolic process ----

    ACO2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACO2 (ACON)

    6 HMDB Compounds for ACO2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Citric acid2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)77-92-9--
    IronArmco iron (see all 19)7439-89-6--
    Isocitric acid1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)320-77-4--
    SulfideSulfide (see all 4)18496-25-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    cis-Aconitic acid(1Z)-1-Propene-1,2,3-tricarboxylate (see all 18)585-84-2--

    5 DrugBank Compounds for ACO2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Hydroxy-Aconitate Ion-- --target--17139284 17016423 10592235
    Aconitate Ion-- --target--17139284 17016423 10592235
    Alpha-Methylisocitric Acid-- --target--17139284 17016423 10592235
    Isocitric Acid-- 320-77-4target--17139284 17016423 10592235
    Tricarballylic Acid-- --target--17139284 17016423 10592235

    2 Novoseek inferred chemical compound relationships for ACO2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 34.1 1 11681208 (1)
    glutamate 12.2 1 16637010 (1)



    ACO2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACO2 gene: 
    NM_001098.2  

    Unigene Cluster for ACO2:

    Aconitase 2, mitochondrial
    Hs.643610  [show with all ESTs]
    Unigene Representative Sequence: BC014092
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216254(uc003bac.3) ENST00000396512 ENST00000471094 ENST00000482208
    ENST00000478010 ENST00000481310 ENST00000466237
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate ACO2:
    hsa-miR-203 hsa-miR-502-5p hsa-miR-3613-3p hsa-miR-500a hsa-miR-3157-5p hsa-miR-4294
    SwitchGear 3'UTR luciferase reporter plasmidACO2 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACO2 (NM_001098)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACO2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACO2
      QuantiTect SYBR Green Assays in human, mouse, rat ACO2
      QuantiFast Probe-based Assays in human, mouse, rat ACO2

    Additional mRNA sequence: 

    AK293562.1 AK296260.1 AK297213.1 AK301321.1 AK302691.1 AK314845.1 BC014092.2 BC026196.2 
    BC127658.1 BC127659.1 CR456365.1 CR536568.1 U80040.1 

    Selected DOTS entries (see all 47):

    DT.420057  DT.97820748  DT.100891526  DT.95195997  DT.100891551  DT.100758261  DT.100891513  DT.100891519 
    DT.100891524  DT.100891528  DT.40114844  DT.75125607  DT.95302501  DT.100759825  DT.100891509  DT.100891539 
    DT.100891546  DT.100891547  DT.420055  DT.87078063  DT.92457677  DT.92457691  DT.97855757  DT.100026962 

    Selected AceView cDNA sequences (see all 889):

    BM982653 AA351027 BX421739 BU155439 BX451060 BI826774 BQ017998 AA565805 
    BM981045 BU627595 AA315324 CD370564 BF939237 AI972921 CB054254 BF026635 
    Z98458 CA503387 BU177463 BQ058615 BM662217 BM849867 CR596641 BU633948 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACO2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
    SP1:                    -                                   -     -                                             
    SP2:                    -                                                                                       
    SP3:                                                        -     -                                             
    SP4:                                                                                                            
    SP5:                    -                 -     -     -     -     -     -     -     -     -     -     -         


    ECgene alternative splicing isoforms for ACO2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACTGTATT
    ACO2 Expression
    About this image


    ACO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Midbrain tegmentum
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Primary Oocyte Primary Follicle
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
    ACO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACO2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643610
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACO2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACO2
    OriGene qSTAR qPCR primer pairs in human, mouse for ACO2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACO2
    QuantiTect SYBR Green Assays in human, mouse, rat ACO2
    QuantiFast Probe-based Assays in human, mouse, rat ACO2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACO2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACO2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aco21 , 5 aconitase 2, mitochondrial1, 5 89.87(n)1
    96.79(a)1
      15 (38.26 cM)5
    114291  NM_080633.21  NP_542364.11 
     818723095 
    chicken
    (Gallus gallus)
    Aves ACO21 aconitase 2, mitochondrial 80.98(n)
    91.67(a)
      374009  NM_204188.2  NP_989519.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    90(a)
    83(a)
    many → 1
    many → 1
    5(26497057-26521736)
    5(46582600-46583531)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046860.12   -- 78.42(n)    BC046860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aco22 aconitase 2, mitochondrial 79.69(n)   322670  BC058049.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47063
    Acon1
    aconitate hydratase3
    Aconitase1
    70(a)3
    69.92(n)1
    73.18(a)1
      441491  NM_001169559.11  NP_001163030.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aco-21 , 3 Aconitate hydratase3
    aco-21
    75(a)3
    66.98(n)1
    75(a)1
      III(8045471-8048704)3
    1761211  NM_171200.41  NP_741235.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACO1(YLR304C)4
    ACO11
    Aconitase, required for the tricarboxylic acid (TCA) more4
    ACO11
    62.19(n)1
    67.37(a)1
      12(737548-735212)4
    8510131, 4  NP_013407.11, 4 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.130822 Transcribed sequence with weak similarity to protein more 75.36(n)    CD057817.1 


    ENSEMBL Gene Tree for ACO2 (if available)
    TreeFam Gene Tree for ACO2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACO2 gene
    1 SIMAP similar gene for ACO2 using alignment to 3 protein entries:     ACON_HUMAN (see all proteins):
    ACON

    ACO2 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ACO2
    PGOHUM00000261320 PGOHUM00000246318 PGOHUM00000235281 PGOHUM00000249453


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACO2 (see all 1250)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365724
    A breast cancer sample4--see VAR_0365722 T N mis40--------
    VAR_0675434
    Infantile cerebellar-retinal degeneration (ICRD)4--see VAR_0675432 S R mis40--------
    rs1456935961,2
    --25779130(+) TTCCCC/TTGCAT 1 -- us2k10--------
    rs1905594801,2
    --25779259(+) GGAGAC/TTGCAG 1 -- us2k10--------
    rs2026311,2
    C,F,A,H--25779297(-) ACCTTC/TCCTCC 1 -- us2k1 tfbs3 trp323Minor allele frequency- T:0.24NS EA NA WA CSA EU 3632
    rs1822676781,2
    C--25779301(+) GAAAGA/GTCAGA 1 -- us2k10--------
    rs1480995251,2
    F--25779326(+) CTTACG/ATCCTT 1 -- us2k11Minor allele frequency- A:0.00NA 4550
    rs738877251,2
    C--25779647(+) TTTCCC/ACAGTG 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs753412511,2
    C,F--25779651(+) CCCAGT/GGTCCA 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs617365351,2
    C,F--25779926(+) CCTCTT/CTGTGG 1 -- us2k12Minor allele frequency- C:0.08NS WA 196

    HapMap Linkage Disequilibrium report for ACO2 (41865129 - 41924993 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACO2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834208CNV Loss17160897
    nsv516925CNV Loss19592680
    nsv524585CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACO2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACO2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACO2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100850   
    OMIM disorders: 614559  
    UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798
  • Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]: A severe autosomal recessive
    neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis,
    seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected
    individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of
    family. Brain MRI shows progressive cerebral and cerebellar degeneration. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for ACO2 (see all 29):    
    About MalaCards
    infantile cerebellar-retinal degeneration    ornithine translocase deficiency    athetosis    retinal degeneration
    cerebellar degeneration    friedreich ataxia    optic atrophy    endocarditis
    hypotonia    retinitis    down syndrome    ataxia
    dilated cardiomyopathy    cystic fibrosis    breast and colorectal cancer    schizophrenia
    cerebritis    obesity    tonsillitis    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for ACO2:
    Friedreich ataxia     Ornithine translocase deficiency

    ACO2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACO2
    Human Genome Epidemiology (HuGE) Navigator: ACO2 (1 document)

    Export disorders for ACO2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACO2 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with ACO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    2. Characterization of the human mitochondrial aconitase gene (ACO2). (PubMed id 9630632)1, 2, 9 Mirel D.B....Wilhelmsen K.C. (Gene 1998)
    3. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. (PubMed id 22405087)1, 2 Spiegel R....Elpeleg O. (Am. J. Hum. Genet. 2012)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. Purification and partial amino acid sequence of human aconitase. (PubMed id 1946331)1, 2 Baldwin G.S.... Simpson R. (Protein Seq. Data Anal. 1991)
    8. Hypoxia upregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells. (PubMed id 23709747)1 Tsui K.H....Juang H.H. (J. Mol. Endocrinol. 2013)
    9. Decreased expression of the mitochondrial metabolic enzyme aconitase (ACO2) is associated with poor prognosis in gastric cancer. (PubMed id 23550275)1 Wang P....Huang P. (Med. Oncol. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50 HGNC: 118 AceView: ACO2 Ensembl:ENSG00000100412 euGenes: HUgn50
    ECgene: ACO2 Kegg: 50 H-InvDB: ACO2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACO2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Aconitase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACO2 gene:
    Search GeneIP for patents involving ACO2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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