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Aliases for ACO2 Gene

Aliases for ACO2 Gene

  • Aconitase 2, Mitochondrial 2 3
  • Citrate Hydro-Lyase 3 4
  • EC 4.2.1.3 4 63
  • Epididymis Secretory Sperm Binding Protein Li 284 3
  • Aconitate Hydratase 2
  • Mitochondrial 2
  • HEL-S-284 3
  • Aconitase 4
  • EC 4.2.1 63
  • ACONM 3
  • ICRD 3
  • OCA8 3

External Ids for ACO2 Gene

Previous GeneCards Identifiers for ACO2 Gene

  • GC22P038479
  • GC22P040108
  • GC22P040189
  • GC22P041865
  • GC22P024830

Summaries for ACO2 Gene

Entrez Gene Summary for ACO2 Gene

  • 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]

GeneCards Summary for ACO2 Gene

ACO2 (Aconitase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with ACO2 include infantile cerebellar-retinal degeneration and optic atrophy 8. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include iron ion binding and aconitate hydratase activity.

UniProtKB/Swiss-Prot for ACO2 Gene

  • Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACO2 Gene

Genomics for ACO2 Gene

Regulatory Elements for ACO2 Gene

Genomic Location for ACO2 Gene

Chromosome:
22
Start:
41,469,125 bp from pter
End:
41,528,989 bp from pter
Size:
59,865 bases
Orientation:
Plus strand

Genomic View for ACO2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACO2 Gene

Proteins for ACO2 Gene

  • Protein details for ACO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99798-ACON_HUMAN
    Recommended name:
    Aconitate hydratase, mitochondrial
    Protein Accession:
    Q99798
    Secondary Accessions:
    • O75809
    • Q5JZ41
    • Q6FHX0
    • Q8TAQ6

    Protein attributes for ACO2 Gene

    Size:
    780 amino acids
    Molecular mass:
    85425 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster per subunit. Binding of a [3Fe-4S] cluster leads to an inactive enzyme.;
    Quaternary structure:
    • Monomer.

neXtProt entry for ACO2 Gene

Proteomics data for ACO2 Gene at MOPED

Post-translational modifications for ACO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACO2 (ACO2)

Domains & Families for ACO2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99798

UniProtKB/Swiss-Prot:

ACON_HUMAN :
  • Belongs to the aconitase/IPM isomerase family.
Family:
  • Belongs to the aconitase/IPM isomerase family.
genes like me logo Genes that share domains with ACO2: view

No data available for Gene Families for ACO2 Gene

Function for ACO2 Gene

Molecular function for ACO2 Gene

GENATLAS Biochemistry:
aconitase 2,iron sulfur protein,catalyzing the mitochondrial,second step of citric acid cycle,ubiquitously expressed,including multiple isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
Citrate = isocitrate
UniProtKB/Swiss-Prot Function:
Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

Enzyme Numbers (IUBMB) for ACO2 Gene

Gene Ontology (GO) - Molecular Function for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003994 aconitate hydratase activity IEA --
GO:0005506 iron ion binding IDA 9630632
GO:0005515 protein binding --
GO:0051538 3 iron, 4 sulfur cluster binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ACO2: view

Phenotypes for ACO2 Gene

MGI mutant phenotypes for ACO2:
inferred from 1 alleles
GenomeRNAi human phenotypes for ACO2:
genes like me logo Genes that share phenotypes with ACO2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACO2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACO2 Gene

Localization for ACO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACO2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACO2 Gene COMPARTMENTS Subcellular localization image for ACO2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA 20833797
GO:0005759 mitochondrial matrix TAS --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with ACO2: view

Pathways & Interactions for ACO2 Gene

genes like me logo Genes that share pathways with ACO2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q99798-ACON_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2

Gene Ontology (GO) - Biological Process for ACO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9630632
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006101 citrate metabolic process IDA 9630632
GO:0006102 isocitrate metabolic process IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ACO2: view

No data available for SIGNOR curated interactions for ACO2 Gene

Drugs & Compounds for ACO2 Gene

(7) Drugs for ACO2 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isocitric acid Experimental Pharma Target 0
Tricarballylic Acid Experimental Pharma Target 0
4-Hydroxy-Aconitate Ion Experimental Pharma Target 0
Aconitate Ion Experimental Pharma Target 0
Alpha-Methylisocitric Acid Experimental Pharma Target 0

(7) Additional Compounds for ACO2 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(Z)-But-1-ene-1,2,4-tricarboxylate
cis-Aconitic acid
  • (1Z)-1-Propene-1,2,3-tricarboxylate
  • (1Z)-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-1-Propene-1,2,3-tricarboxylate
  • (Z)-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-Aconitate
585-84-2
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Homocitric acid
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylate
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylic acid
  • 2-Hydroxybutane-1,2,4-tricarboxylate
  • 3-Hydroxy-3-carboxyadipate
  • 3-Hydroxy-3-carboxyadipic acid
3562-74-1
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with ACO2: view

Transcripts for ACO2 Gene

Unigene Clusters for ACO2 Gene

Aconitase 2, mitochondrial:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACO2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACO2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5: - - - - - - - - - - - -
SP6: -

Relevant External Links for ACO2 Gene

GeneLoc Exon Structure for
ACO2
ECgene alternative splicing isoforms for
ACO2

Expression for ACO2 Gene

mRNA expression in normal human tissues for ACO2 Gene

mRNA differential expression in normal tissues according to GTEx for ACO2 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.4) and Muscle - Skeletal (x5.3).

Protein differential expression in normal tissues from HIPED for ACO2 Gene

This gene is overexpressed in Heart (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACO2 Gene



SOURCE GeneReport for Unigene cluster for ACO2 Gene Hs.643610

genes like me logo Genes that share expression patterns with ACO2: view

Protein tissue co-expression partners for ACO2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACO2 Gene

Orthologs for ACO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACO2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACO2 35
  • 91.37 (n)
  • 96.41 (a)
ACO2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACO2 35
  • 91.45 (n)
  • 96.54 (a)
ACO2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aco2 35
  • 89.87 (n)
  • 96.79 (a)
Aco2 16
Aco2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aco2 35
  • 89.74 (n)
  • 96.41 (a)
oppossum
(Monodelphis domestica)
Mammalia ACO2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACO2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACO2 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACO2 35
  • 80.98 (n)
  • 91.67 (a)
ACO2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 90 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aco2 35
  • 76.64 (n)
  • 88.7 (a)
Str.823 35
zebrafish
(Danio rerio)
Actinopterygii aco2 35
  • 74.79 (n)
  • 83.21 (a)
aco2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4706 37
  • 70 (a)
Acon 35
  • 69.92 (n)
  • 73.18 (a)
Acon 36
  • 70 (a)
OneToMany
CG4706 36
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007852 35
  • 70.42 (n)
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea aco-2 37
  • 75 (a)
aco-2 35
  • 66.98 (n)
  • 75 (a)
aco-2 36
  • 73 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL032W 35
  • 64.57 (n)
  • 67.06 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17314g 35
  • 60.52 (n)
  • 66.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO1 35
  • 62.19 (n)
  • 67.37 (a)
ACO1 36
  • 66 (a)
OneToOne
ACO1 38
barley
(Hordeum vulgare)
Liliopsida Hv.13082 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02366 35
  • 66.01 (n)
  • 65.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.06c 35
  • 61.35 (n)
  • 66.02 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3336 36
  • 71 (a)
OneToOne
Species with no ortholog for ACO2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACO2 Gene

ENSEMBL:
Gene Tree for ACO2 (if available)
TreeFam:
Gene Tree for ACO2 (if available)

Paralogs for ACO2 Gene

(1) SIMAP similar genes for ACO2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ACO2 Gene

genes like me logo Genes that share paralogs with ACO2: view

No data available for Paralogs for ACO2 Gene

Variants for ACO2 Gene

Sequence variations from dbSNP and Humsavar for ACO2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs79013 -- 41,493,359(-) TTTTT(A/T)AATTT intron-variant
rs137829 -- 41,499,050(-) gtggg(A/G)tctcg intron-variant
rs137830 -- 41,506,499(+) CCGCC(C/T)GTCTC intron-variant
rs137831 Likely benign 41,507,809(+) CTGAC(A/C)CTCTC reference, synonymous-codon
rs137832 -- 41,509,835(+) TTTTT(-/T/TT)GAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACO2 Gene

Variant ID Type Subtype PubMed ID
nsv524585 CNV Loss 19592680
nsv516925 CNV Loss 19592680
nsv834208 CNV Loss 17160897

Variation tolerance for ACO2 Gene

Residual Variation Intolerance Score: 8.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACO2 Gene

HapMap Linkage Disequilibrium report
ACO2
Human Gene Mutation Database (HGMD)
ACO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACO2 Gene

Disorders for ACO2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACO2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
infantile cerebellar-retinal degeneration
  • icrd
optic atrophy 8
  • opa8
autosomal recessive optic atrophy, opa8 type
  • infantile cerebellar-retinal degeneration
athetosis
x-linked sideroblastic anemia with ataxia
  • sideroblastic anemia with spinocerebellar ataxia
- elite association
Search ACO2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACON_HUMAN
  • 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. {ECO:0000269 PubMed:22405087, ECO:0000269 PubMed:25351951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Optic atrophy 8 (OPA8) [MIM:616289]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. {ECO:0000269 PubMed:25351951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACO2

Genetic Association Database (GAD)
ACO2
Human Genome Epidemiology (HuGE) Navigator
ACO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACO2
genes like me logo Genes that share disorders with ACO2: view

No data available for Genatlas for ACO2 Gene

Publications for ACO2 Gene

  1. Anti-cancer effect of Betulin on a human lung cancer cell line: a pharmacoproteomic approach using 2 D SDS PAGE coupled with nano-HPLC tandem Mass Spectrometry. (PMID: 19085751) Pyo J.S. … Park J.H. (Planta Med. 2009) 23 67
  2. Genomic differences between Campylobacter jejuni isolates identify surface membrane and flagellar function gene products potentially important for colonizing the chicken intestine. (PMID: 18592283) Hiett K.L. … Seal B.S. (Funct. Integr. Genomics 2008) 23 67
  3. Aconitate hydratase of mammals under oxidative stress. (PMID: 18976211) Matasova L.V. … Popova T.N. (Biochemistry Mosc. 2008) 23 67
  4. Proteomic analyses of a robust versus a poor chicken gastrointestinal colonizing isolate of Campylobacter jejuni. (PMID: 17973442) Seal B.S. … Stintzi A. (J. Proteome Res. 2007) 23 67
  5. Proteomics analysis of hypothalamic response to energy restriction in dairy cows. (PMID: 17907270) Kuhla B. … Metges C.C. (Proteomics 2007) 23 67

Products for ACO2 Gene

Sources for ACO2 Gene

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