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    Aco2 aconitase 2, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 11429, updated on 9-Dec-2024

    Summary

    Official Symbol
    Aco2provided by MGI
    Official Full Name
    aconitase 2, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:87880
    See related
    Ensembl:ENSMUSG00000022477 AllianceGenome:MGI:87880
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Aco3; Irp1; Aco-2; D10Wsu183e
    Summary
    Enables aconitate hydratase activity. Involved in tricarboxylic acid cycle. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in infantile cerebellar-retinal degeneration and optic atrophy 9. Orthologous to human ACO2 (aconitase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 787.3), kidney adult (RPKM 344.6) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Aco2 in Genome Data Viewer
    Location:
    15 E1; 15 38.26 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (81756664..81799338)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (81872463..81915137)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8599 Neighboring gene STARR-positive B cell enhancer ABC_E7399 Neighboring gene STARR-positive B cell enhancer ABC_E481 Neighboring gene transducer of ERBB2, 2 Neighboring gene PHD finger protein 5A Neighboring gene STARR-seq mESC enhancer starr_39272 Neighboring gene polymerase (RNA) III (DNA directed) polypeptide H Neighboring gene STARR-positive B cell enhancer ABC_E2447 Neighboring gene cold shock domain containing C2, RNA binding Neighboring gene STARR-seq mESC enhancer starr_39275 Neighboring gene phosphomannomutase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 3 iron, 4 sulfur cluster binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables 4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 4 iron, 4 sulfur cluster binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables aconitate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aconitate hydratase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aconitate hydratase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables iron ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within citrate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in citrate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in isocitrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in isocitrate metabolic process ISO
    Inferred from Sequence Orthology
    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
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within tricarboxylic acid cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tricarboxylic acid cycle ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myelin sheath HDA PubMed 

    General protein information

    Preferred Names
    aconitate hydratase, mitochondrial
    Names
    citrate hydro-lyase
    NP_542364.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_080633.2NP_542364.1  aconitate hydratase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_542364.1

      Status: VALIDATED

      Source sequence(s)
      BI987806, BQ031215, BY732916, CA750686, CO426953, CO429053
      Consensus CDS
      CCDS27675.1
      UniProtKB/Swiss-Prot
      Q3UDK9, Q3ULG9, Q3UNH7, Q505P4, Q99KI0
      Related
      ENSMUSP00000023116.7, ENSMUST00000023116.7
      Conserved Domains (3) summary
      cd01584
      Location:95505
      AcnA_Mitochondrial; Aconitase catalyzes the reversible isomerization of citrate and isocitrate as part of the TCA cycle
      cd01578
      Location:587735
      AcnA_Mitochon_Swivel; Mitochondrial aconitase A swivel domain. Aconitase (also known as aconitate hydratase and citrate hydro-lyase) catalyzes the reversible isomerization of citrate and isocitrate as part of the TCA cycle. This is the aconitase swivel domain, which undergoes ...
      TIGR01340
      Location:45775
      aconitase_mito; aconitate hydratase, mitochondrial

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      81756664..81799338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)