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    ACO2 aconitase 2 [ Homo sapiens (human) ]

    Gene ID: 50, updated on 12-May-2019

    Summary

    Official Symbol
    ACO2provided by HGNC
    Official Full Name
    aconitase 2provided by HGNC
    Primary source
    HGNC:HGNC:118
    See related
    Ensembl:ENSG00000100412 MIM:100850
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICRD; OCA8; OPA9; ACONM; HEL-S-284
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 162.7), kidney (RPKM 93.6) and 24 other tissues See more
    Orthologs

    Genomic context

    See ACO2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41468756..41528989)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41865099..41924993)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373043 Neighboring gene transducer of ERBB2, 2 Neighboring gene PHD finger protein 5A Neighboring gene RNA polymerase III subunit H Neighboring gene uncharacterized LOC105373044 Neighboring gene cold shock domain containing C2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC20605, MGC33908

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    aconitate hydratase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    aconitate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    citrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    isocitrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    response to isolation stress IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tricarboxylic acid cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    aconitate hydratase, mitochondrial
    Names
    aconitase 2, mitochondrial
    citrate hydro-lyase
    epididymis secretory sperm binding protein Li 284
    mitochondrial aconitase
    NP_001089.1
    XP_016884301.1
    XP_024308018.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032143.1 RefSeqGene

      Range
      5001..64865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098.3NP_001089.1  aconitate hydratase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001089.1

      Status: REVIEWED

      Source sequence(s)
      AL008582, BC014092, BC026196
      Consensus CDS
      CCDS14017.1
      UniProtKB/Swiss-Prot
      Q99798
      Related
      ENSP00000216254.4, ENST00000216254.9
      Conserved Domains (1) summary
      cl28376
      Location:45775
      AcnA; Aconitase A [Energy production and conversion]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      41468756..41528989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452250.1XP_024308018.1  aconitate hydratase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl28376
      Location:45775
      AcnA; Aconitase A [Energy production and conversion]
    2. XM_017028812.1XP_016884301.1  aconitate hydratase, mitochondrial isoform X2

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