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Aco2 Gene Detail
Summary
  • Symbol
    Aco2
  • Name
    aconitase 2, mitochondrial
  • Synonyms
    Aco-2, Aco3, D10Wsu183e
  • Feature Type
    protein coding gene
  • IDs
    MGI:87880
    NCBI Gene: 11429
Location & Maps
more
  • Sequence Map
    Chr15:81872309-81915133 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42825 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 38.26 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    ACO2, aconitase 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ACO2, aconitase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACONM, HEL-S-284, ICRD, OCA8, OPA9
  • Links
    NCBI Gene ID: 50
    neXtProt AC: NX_Q99798

  • Chr Location
    22q13.2; chr22:41469125-41528989 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ACO2 associations

Human Disease Mouse Models
       Infantile Cerebellar-Retinal Degeneration; ICRD   OMIM: 614559
Optic Atrophy 9; OPA9   OMIM: 616289
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotype references
  • All Mutations and Alleles
    102
  • Chemically induced (other)
    1
  • Gene trapped
    97
  • Radiation induced
    2
  • Targeted
    2
  • Genomic Mutations
    3 involving Aco2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016391 VEGA Gene Model | MGI Sequence Detail 42825 C57BL/6J ±  kb
transcript OTTMUST00000039478 VEGA | MGI Sequence Detail 2918 Not Applicable  
polypeptide OTTMUSP00000017637 VEGA | MGI Sequence Detail 780 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    210 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000003632 aconitate hydratase, mitochondrial
  • EC
  • InterPro Domains
    IPR001030 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain
    IPR015931 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3
    IPR015932 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2
    IPR015928 Aconitase/3-isopropylmalate dehydratase, swivel
    IPR000573 Aconitase A/isopropylmalate dehydratase small subunit, swivel domain
    IPR018136 Aconitase family, 4Fe-4S cluster binding site
    IPR015937 Aconitase/isopropylmalate dehydratase
    IPR006248 Aconitase, mitochondrial-like
Molecular
Reagents
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  • All nucleic 22
    cDNA 18
    Primer pair 3
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-1045, MGD-MRK-1047, MGD-MRK-19418, MGD-MRK-36451, MGI:107874
References
more
  • Summaries
    All 47
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 10
    Phenotypes 26
  • Earliest
    J:13842 Nash HR, et al., Aconitase. Mouse News Lett. 1980;62:57-8
  • Latest
    J:172853 Kohr MJ, et al., Characterization of potential S-nitrosylation sites in the myocardium. Am J Physiol Heart Circ Physiol. 2011 Apr;300(4):H1327-35

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory