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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACO2 Gene

protein-coding   GIFtS: 66
GCID: GC22P041865

aconitase 2, mitochondrial

 Explore 21 diseases affiliated with
ACO2 via our new
 Human Malady Compendium 
Biological research products
for ACO2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aconitase 2, Mitochondrial1 2     ICRD2
ACONM1 2     Aconitate Hydratase, Mitochondrial2
Citrate Hydro-Lyase2 3     Aconitase3
EC 4.2.1.33 8     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACO2:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACO2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: O75809 Q5JZ41 Q6FHX0 Q8TAQ6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99798

  • 4/30 DME Specific Peptides for ACO2 (Q99798) (see all 30)
     SYNRNFT  GSSREHA  YGHLDDP  VIGVKLTG 

    ACO2 Protein expression data from MOPED and PaxDb:    About this image 
    ACO2 Protein Expression
    REFSEQ proteins: NP_001089.1  
    ENSEMBL proteins: 
     ENSP00000216254   ENSP00000379769  
    Reactome Protein details: Q99798
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    Uscn Proteins for ACO2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    ACO2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACO2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR001030 Acoase/IPM_deHydtase_lsu_aba
     IPR018136 Aconitase_4Fe-4S_BS
     IPR000573 AconitaseA/IPMdHydase_ssu_swvl
     IPR015932 Aconitase/IPMdHydase_lsu_aba_2
     IPR006248 Aconitase_mito-like

    Graphical View of Domain Structure for InterPro Entry Q99798

    ProtoNet protein and cluster: Q99798

    2 Blocks protein families:
    IPB000573 Aconitate hydratase
    IPB001030 Aconitate hydratase


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003994aconitate hydratase activity ----
    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 - Customizable classic, inducible, and humanized mouse model solutions for ACO2 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    TCA Cycle1.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    Citrate cycle (TCA cycle)0.65
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3TCA cycle II (eukaryotic)
    TCA cycle II (eukaryotic)1.00
    Citric acid cycle (TCA cycle)0.67
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    5Mitochondrial Protein Import
    Mitochondrial Protein Import1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    2 BioSystems Pathways for ACO2 
        TCA cycle II (eukaryotic)
    TCA Cycle

    5/6        Reactome Pathways for ACO2 (see all 6)
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Mitochondrial Protein Import
    Citric acid cycle (TCA cycle)
    Metabolism of proteins


    3         Kegg Pathways  (Kegg details for ACO2):
        Citrate cycle (TCA cycle)
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways

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


    ACO2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACO2

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

    5/236 Interacting proteins for ACO2 (Q997982, 3 ENSP000002162544) via UniProtKB, MINT, STRING, and/or I2D (see all 236)

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0008219cell death IEA--

    ACO2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACO2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACO2

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ACO2 / ACON 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    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

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    Additional cDNA 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 

    24/47 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 

    24/889 AceView cDNA sequences (see all 889):

    BX451060 CR613743 BC014092 BX464977 BX457836 BQ894362 AI150888 CR456365 
    CB269755 BQ961424 AI085953 BM667428 AI554773 CD368031 BM555127 CA419829 
    CR614581 T31100 BX105248 AA363904 BM453415 BU727840 BM849867 BM471282 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    ACO2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    Gut TubeMidgutGut Tube
    KidneyMetanephrosKidney
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACO2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACO2

    SOURCE GeneReport for Unigene cluster: Hs.643610
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACO2: 
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              Glucose Metabolism in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ACO2 gene from 10/40 species (see all 40)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 ACO26
    --
    --
    89(a)
    83(a)
    1 ↔ many
    1 ↔ many
    5(26503809-26521662)
    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
    69.81(n)1
    72.77(a)1
      441491  NM_079969.41  NP_524708.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aco-21 , 3 Aconitate hydratase3
    Protein ACO-21
    75(a)3
    67.38(n)1
    75.6(a)1
      III(8045471-8048704)3
    1761211  NM_171200.31  NP_741235.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACO1(YLR304C)4
    ACO11
    Aconitase, required for the tricarboxylic acid (TCA) more4
    Aco1p1
    62.19(n)1
    67.37(a)1
      12(737548-735212)4
    8510131, 4  NP_013407.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IIL16
    3-isopropylmalate dehydratase
    19(a)
    1 ↔ 1
    4(7803933-7807871)
    rice
    (Oryza sativa)
    Liliopsida --
    3-isopropylmalate dehydratase large subunit 2, put...
    20(a)
    1 ↔ 1
    2(1304820-1309845)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria leuC6
    ybhJ6
    (see all 3)
    predicted hydratase
    (see all 3)
    21(a)
    19(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    Chromosome(79464-80864)
    Chromosome(802726-804987)


    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)
    About This Section
    Paralogs for ACO2 gene
    IREB22  ACO12  
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/997 NCBI SNPs in ACO2 are shown (see all 997    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1456935961,2
    --41863256(+) TTCCCC/TTGCAT 2 -- int1 us2k10--------
    rs1905594801,2
    --41863385(+) GGAGAC/TTGCAG 2 -- us2k1 int10--------
    rs2026311,2
    C,F,A,H--41863423(-) ACCTTC/TCCTCC 2 -- us2k1 int1 tfbs3 trp323Minor allele frequency- T:0.24NS EA NA WA CSA EU 3632
    rs1822676781,2
    C--41863427(+) GAAAGA/GTCAGA 2 -- us2k1 int10--------
    rs1501124061,2
    C--41863682(+) CCATG-/GGGAAATAT
    ACTAGTCTCCT
    GGGAA
    2 -- us2k1 int10--------
    rs117050681,2
    C,A,H--41863690(+) AAATAC/TACTAG 2 -- int1 us2k10--------
    rs2006786161,2
    C--41863703(-) ATTTCA/CCAGGA 2 -- int1 us2k10--------
    rs738877251,2
    C--41863773(+) TTTCCC/ACAGTG 2 -- int1 us2k12Minor allele frequency- A:0.05WA 120
    rs753412511,2
    F--41863777(+) CCCAGT/GGTCCA 2 -- int1 us2k11Minor allele frequency- G:0.05WA 118
    rs617365351,2
    F--41864052(+) CCTCTT/CTGTGG 2 -- us2k1 int12Minor allele frequency- C:0.08NS WA 196

    HapMap Linkage Disequilibrium report for ACO2 (41865129 - 41924993 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ACO2
         3 CNVs: 50867 50866 5189
    Human Gene Mutation Database (HGMD): ACO2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACO2
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    (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.)
    About This Section

    ACO2 for disorders           About GeneDecksing

    OMIM gene information: 100850    OMIM disorders: --

    UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798
  • Defects in ACO2 are the cause of 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

    20/21 diseases for ACO2 (see all 21):    About MalaCards
    iron overload    friedreich ataxia    cystic fibrosis    down syndrome
    endocarditis    ataxia    fibrosis    alzheimer's disease
    prostate carcinoma    colorectal cancer    lung cancer    obesity
    prostatitis    schizophrenia    tuberculosis    carcinoma
    pancreatitis    athetosis    retinal degeneration    mycobacterium tuberculosis

    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)
    About This Section

    PubMed articles for ACO2 gene, integrated from 9 sources (see all 58):
    (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....O'Brien K.P. (1999)
    2. Characterization of the human mitochondrial aconitase gene (ACO2). (PubMed id 9630632)1, 2, 9 Mirel D.B....Wilhelmsen K.C. (1998)
    3. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. (PubMed id 22405087)1, 2 Spiegel R....Elpeleg O. (2012)
    4. 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. (2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    6. Purification and partial amino acid sequence of human aconitase. (PubMed id 1946331)1, 2 Baldwin G.S.... Simpson R. (1991)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. p53 downregulates the gene expression of mitochondria l aconitase in human prostate carcinoma cells. (PubMed id 20607720)1 Tsui K.H....Juang H.H. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 50 HGNC: 118 AceView: ACO2 Ensembl:ENSG00000100412 euGenes: HUgn50
    ECgene: ACO2 Kegg: 50 H-InvDB: ACO2

    (According to HUGE)
    About This Section
      --

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