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    ACO2 aconitase 2 [ Homo sapiens (human) ]

    Gene ID: 50, updated on 5-May-2024

    Summary

    Official Symbol
    ACO2provided by HGNC
    Official Full Name
    aconitase 2provided by HGNC
    Primary source
    HGNC:HGNC:118
    See related
    Ensembl:ENSG00000100412 MIM:100850; AllianceGenome:HGNC:118
    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
    NEW
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    Genomic context

    See ACO2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41469117..41528974)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41947611..42007811)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41865121..41924978)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41842575-41843270 Neighboring gene uncharacterized LOC105373043 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41843271-41843966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41864665-41865226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41865227-41865788 Neighboring gene PHD finger protein 5A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13791 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41906728-41906890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41908781-41909388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41909996-41910602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41910603-41911209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19118 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41922291-41922505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41927905-41928713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41928714-41929522 Neighboring gene Sharpr-MPRA regulatory region 5669 Neighboring gene RNA polymerase III subunit H Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41939835-41940672 Neighboring gene uncharacterized LOC105373044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41951599-41952098 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41952629-41952876 Neighboring gene Sharpr-MPRA regulatory region 3167 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC20605, MGC33908

    Gene Ontology Provided by GOA

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

    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_054181635.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4993..64850
      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
      O75809, Q5JZ41, Q6FHX0, Q8TAQ6, Q99798
      UniProtKB/TrEMBL
      B2RBW5
      Related
      ENSP00000216254.4, ENST00000216254.9
      Conserved Domains (1) summary
      cl28376
      Location:45775
      AcnA; Aconitase A [Energy production and conversion]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41469117..41528974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      41947611..42007811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325660.1XP_054181635.1  aconitate hydratase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      O75809, Q5JZ41, Q6FHX0, Q8TAQ6, Q99798