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Aliases for ACO2 Gene

Aliases for ACO2 Gene

  • Aconitase 2 2 3 5
  • Aconitate Hydratase, Mitochondrial 2 3
  • Aconitase 2, Mitochondrial 2 3
  • Mitochondrial Aconitase 2 3
  • Citrate Hydro-Lyase 3 4
  • EC 4.2.1.3 4 61
  • Epididymis Secretory Sperm Binding Protein Li 284 3
  • Aconitase 4
  • HEL-S-284 3
  • EC 4.2.1 61
  • ACONM 3
  • ICRD 3
  • OCA8 3
  • OPA9 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) is a Protein Coding gene. Diseases associated with ACO2 include Infantile Cerebellar-Retinal Degeneration and Optic Atrophy 8. Among its related pathways are Metabolism and Citrate cycle (TCA cycle). GO annotations related to this gene include iron ion binding and aconitate hydratase activity. An important paralog of this gene is ACO1.

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

Enhancers for ACO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F041444 1.2 FANTOM5 ENCODE 12.7 -22.4 -22410 5.9 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 EP300 PHF5A XRCC6 FAM109B ENSG00000232754 EP300-AS1 MEI1 NAGA HMGN2P10 POLR3H
GH22F041497 0.6 ENCODE 12.1 +30.3 30310 4.2 CTCF ZNF654 MAFG RAD21 ZNF121 ZNF316 MAFF SMC3 PRDM10 MAFK ACO2 PHF5A CSDC2 ENSG00000227370 L3MBTL2 POLR3H PIR44656 GC22M041487
GH22F041443 0.8 FANTOM5 ENCODE 11.8 -25.7 -25716 0.4 MLLT1 KLF7 PRDM1 ZNF18 ACO2 PHF5A CYP2D6 TOB2 GC22P041443 LOC105373043
GH22F041393 0.2 ENCODE 11.3 -74.7 -74692 1.3 PRDM10 ZNF24 CSDC2 TEF POLR3H PHF5A ACO2 PIR38134 LOC105373042
GH22F041397 0.2 ENCODE 11.3 -71.7 -71694 0.2 ELF3 TBP ARID4B THRB ZNF48 RAD21 RARA YY1 CREM MIXL1 TEF PHF5A ACO2 CSDC2 PIR50015 PIR58640
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACO2 on UCSC Golden Path with GeneCards custom track

Promoters for ACO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000618760 75 2401 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Genes around ACO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Monomer.

neXtProt entry for ACO2 Gene

Post-translational modifications for ACO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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 EXP 1052766
GO:0005506 iron ion binding IDA 9630632
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ACO2: view
genes like me logo Genes that share phenotypes with ACO2: view

Human Phenotype Ontology for ACO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ACO2

Inhibitory RNA Products

Clone 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 5
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

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:0001889 liver development IEA --
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 --
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

(8) Drugs for ACO2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Isocitric 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
1,2,3-Propanetricarboxylic acid
  • 1,2,3-Tripropanetricarboxylic acid
  • 3-Carboxyglutaric acid
  • beta-Carboxyglutaric acid
  • Carballylic acid
  • Propane 1,2,3-tricarboxylic acid
99-14-9
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
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:

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for ACO2 Gene



Protein tissue co-expression partners for ACO2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACO2 Gene:

ACO2

SOURCE GeneReport for Unigene cluster for ACO2 Gene:

Hs.643610
genes like me logo Genes that share expression patterns with ACO2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ACO2 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACO2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACO2 34 35
  • 91.45 (n)
cow
(Bos Taurus)
Mammalia ACO2 34 35
  • 91.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACO2 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aco2 34 16 35
  • 89.87 (n)
rat
(Rattus norvegicus)
Mammalia Aco2 34
  • 89.74 (n)
chicken
(Gallus gallus)
Aves ACO2 34 35
  • 80.98 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 90 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aco2 34
  • 76.64 (n)
Str.823 34
zebrafish
(Danio rerio)
Actinopterygii aco2 34 35
  • 74.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007852 34
  • 70.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4706 36 35
  • 70 (a)
Acon 34 35
  • 69.92 (n)
worm
(Caenorhabditis elegans)
Secernentea aco-2 36 34 35
  • 66.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL032W 34
  • 64.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO1 34 35 37
  • 62.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17314g 34
  • 60.52 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.13082 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3336 35
  • 71 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02366 34
  • 66.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.06c 34
  • 61.35 (n)
Species where no ortholog for ACO2 was found in the sources mined by GeneCards:
  • 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

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

Variants for ACO2 Gene

Sequence variations from dbSNP and Humsavar for ACO2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs141772938 Optic atrophy 9 (OPA9) [MIM:616289], Pathogenic 41,507,837(+) GACAC(C/G)TGGAT reference, missense
rs752034900 Optic atrophy 9 (OPA9) [MIM:616289], Pathogenic 41,527,315(+) TGATC(A/G)GAGAC reference, missense, utr-variant-3-prime
rs786200924 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559], Pathogenic 41,507,953(+) ATCAG(C/G)AGCGG reference, missense
rs786204828 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559], Pathogenic 41,515,858(+) GAAAG(A/G)TGGCA reference, missense
rs786204829 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559], Pathogenic 41,528,022(+) GGCAA(C/G)GTTAG reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv3647798 CNV loss 21293372
esv3647799 CNV gain 21293372
nsv516925 CNV loss 19592680
nsv524585 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

Human Gene Mutation Database (HGMD)
ACO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

- elite association - COSMIC cancer census association via MalaCards
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 9 (OPA9) [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. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  2. Characterization of the human mitochondrial aconitase gene (ACO2). (PMID: 9630632) Mirel D.B. … Wilhelmsen K.C. (Gene 1998) 3 4 22 64
  3. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. (PMID: 25351951) Metodiev M.D. … Besmond C. (J. Med. Genet. 2014) 3 4 64
  4. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. (PMID: 22405087) Spiegel R. … Elpeleg O. (Am. J. Hum. Genet. 2012) 3 4 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for ACO2 Gene

Sources for ACO2 Gene

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