Human Gene ACO2 (ENST00000216254.9_9) from GENCODE V47lift37
  Description: aconitase 2 (from RefSeq NM_001098.3)
Gencode Transcript: ENST00000216254.9_9
Gencode Gene: ENSG00000100412.17_14
Transcript (Including UTRs)
   Position: hg19 chr22:41,865,121-41,924,978 Size: 59,858 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr22:41,865,151-41,924,617 Size: 59,467 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:41,865,121-41,924,978)mRNA (may differ from genome)Protein (780 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACON_HUMAN
DESCRIPTION: RecName: Full=Aconitate hydratase, mitochondrial; Short=Aconitase; EC=4.2.1.3; AltName: Full=Citrate hydro-lyase; Flags: Precursor;
FUNCTION: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity).
CATALYTIC ACTIVITY: Citrate = isocitrate.
COFACTOR: Binds 1 4Fe-4S cluster per subunit. Binding of a 3Fe-4S cluster leads to an inactive enzyme (By similarity).
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
DISEASE: Defects in ACO2 are the cause of 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.
SIMILARITY: Belongs to the aconitase/IPM isomerase family.
WEB RESOURCE: Name=Wikipedia; Note=Aconitase entry; URL="http://en.wikipedia.org/wiki/Aconitase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACO2
Diseases sorted by gene-association score: infantile cerebellar-retinal degeneration* (1698), optic atrophy 9* (1379), autosomal recessive isolated optic atrophy* (247), retinal degeneration (11), athetosis (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 180.57 RPKM in Heart - Left Ventricle
Total median expression: 2043.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.1030-0.103 Picture PostScript Text
3' UTR -97.40361-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015931 - Acnase/IPM_dHydase_lsu_aba_1/3
IPR015937 - Acoase/IPM_deHydtase
IPR001030 - Acoase/IPM_deHydtase_lsu_aba
IPR015928 - Aconitase/3IPM_dehydase_swvl
IPR015932 - Aconitase/IPMdHydase_lsu_aba_2
IPR018136 - Aconitase_4Fe-4S_BS
IPR006248 - Aconitase_mito-like
IPR000573 - AconitaseA/IPMdHydase_ssu_swvl

Pfam Domains:
PF00330 - Aconitase family (aconitate hydratase)
PF00694 - Aconitase C-terminal domain

SCOP Domains:
52016 - LeuD/IlvD-like
53732 - Aconitase iron-sulfur domain

ModBase Predicted Comparative 3D Structure on Q99798
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003994 aconitate hydratase activity
GO:0005506 iron ion binding
GO:0016829 lyase activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051538 3 iron, 4 sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0001889 liver development
GO:0006091 generation of precursor metabolites and energy
GO:0006099 tricarboxylic acid cycle
GO:0006101 citrate metabolic process
GO:0006102 isocitrate metabolic process
GO:0008152 metabolic process
GO:0035900 response to isolation stress

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  AK314845 - Homo sapiens cDNA, FLJ95737, highly similar to Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear geneencoding mitochondrial protein, mRNA.
AK293562 - Homo sapiens cDNA FLJ60429 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3).
AK297213 - Homo sapiens cDNA FLJ52327 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3).
AK301321 - Homo sapiens cDNA FLJ50886 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor(EC 4.2.1.3).
AK302691 - Homo sapiens cDNA FLJ51705 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3).
AK296260 - Homo sapiens cDNA FLJ54329 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor(EC 4.2.1.3).
BC026196 - Homo sapiens aconitase 2, mitochondrial, mRNA (cDNA clone MGC:33908 IMAGE:5264179), complete cds.
GQ472196 - Homo sapiens epididymis secretory sperm binding protein Li 284 (HEL-S-284) mRNA, complete cds.
GQ891499 - Homo sapiens clone HEL-S-220 epididymis secretory sperm binding protein mRNA, complete cds.
BC014092 - Homo sapiens aconitase 2, mitochondrial, mRNA (cDNA clone MGC:20605 IMAGE:4328775), complete cds.
U80040 - Human nuclear aconitase mRNA, encoding mitochondrial protein, complete cds.
CR456365 - Homo sapiens ACO2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.ACO2).
AB385022 - Synthetic construct DNA, clone: pF1KB5053, Homo sapiens ACO2 gene for aconitate hydratase, complete cds, without stop codon, in Flexi system.
CU013220 - Homo sapiens ACO2, mRNA (cDNA clone IMAGE:100000000), complete cds, without stop codon, in Gateway system.
DQ893674 - Synthetic construct clone IMAGE:100006304; FLH188127.01X; RZPDo839G09150D aconitase 2, mitochondrial (ACO2) gene, encodes complete protein; nuclear gene for mitochondrial product.
DQ895836 - Synthetic construct Homo sapiens clone IMAGE:100010296; FLH188123.01L; RZPDo839G09149D aconitase 2, mitochondrial (ACO2) gene, encodes complete protein; nuclear gene for mitochondrial product.
CR536568 - Homo sapiens full open reading frame cDNA clone RZPDo834C0922D for gene ACO2, aconitase 2, mitochondrial; complete cds, incl. stopcodon.
CU012932 - Homo sapiens ACO2, mRNA (cDNA clone IMAGE:100000096), complete cds, with stop codon, in Gateway system.
DQ583545 - Homo sapiens piRNA piR-50657, complete sequence.
DQ576966 - Homo sapiens piRNA piR-45078, complete sequence.
JD023290 - Sequence 4314 from Patent EP1572962.
JD036247 - Sequence 17271 from Patent EP1572962.
DQ572644 - Homo sapiens piRNA piR-40756, complete sequence.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-398 - TCA cycle
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Reactome (by CSHL, EBI, and GO)

Protein Q99798 (Reactome details) participates in the following event(s):

R-HSA-70971 citrate <=> isocitrate
R-HSA-450975 isocitrate <=> citrate
R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
R-HSA-71403 Citric acid cycle (TCA cycle)
R-HSA-1268020 Mitochondrial protein import
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-392499 Metabolism of proteins
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACON_HUMAN, ENST00000216254.1, ENST00000216254.2, ENST00000216254.3, ENST00000216254.4, ENST00000216254.5, ENST00000216254.6, ENST00000216254.7, ENST00000216254.8, NM_001098, O75809, Q5JZ41, Q6FHX0, Q8TAQ6, Q99798, uc317cpn.1, uc317cpn.2
UCSC ID: ENST00000216254.9_9
RefSeq Accession: NM_001098.3
Protein: Q99798 (aka ACON_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ACO2:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.