Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACO2 (aconitase 2, mitochondrial)

Identity

Other namesACONM
ICRD
HGNC (Hugo) ACO2
LocusID (NCBI) 50
Location 22q13.2
Location_base_pair Starts at 41865129 and ends at 41924993 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACO2   118
Cards
Entrez_Gene (NCBI)ACO2  50  aconitase 2, mitochondrial
GeneCards (Weizmann)ACO2
Ensembl (Hinxton)ENSG00000100412 [Gene_View]  chr22:41865129-41924993 [Contig_View]  ACO2 [Vega]
ICGC DataPortalENSG00000100412
cBioPortalACO2
AceView (NCBI)ACO2
Genatlas (Paris)ACO2
WikiGenes50
SOURCE (Princeton)NM_001098
Genomic and cartography
GoldenPath (UCSC)ACO2  -  22q13.2   chr22:41865129-41924993 +  22q13.2   [Description]    (hg19-Feb_2009)
EnsemblACO2 - 22q13.2 [CytoView]
Mapping of homologs : NCBIACO2 [Mapview]
OMIM100850   614559   
Gene and transcription
Genbank (Entrez)AA724140 AK293562 AK296260 AK297213 AK301321
RefSeq transcript (Entrez)NM_001098
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_032143 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)ACO2
Cluster EST : UnigeneHs.643610 [ NCBI ]
CGAP (NCI)Hs.643610
Alternative Splicing : Fast-db (Paris)GSHG0020061
Alternative Splicing GalleryENSG00000100412
Gene ExpressionACO2 [ NCBI-GEO ]     ACO2 [ SEEK ]   ACO2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99798 (Uniprot)
NextProtQ99798  [Medical]
With graphics : InterProQ99798
Splice isoforms : SwissVarQ99798 (Swissvar)
Catalytic activity : Enzyme4.2.1.3 [ Enzyme-Expasy ]   4.2.1.34.2.1.3 [ IntEnz-EBI ]   4.2.1.3 [ BRENDA ]   4.2.1.3 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ACONITASE_1 (PS00450)    ACONITASE_2 (PS01244)   
Domains : Interpro (EBI)Acnase/IPM_dHydase_lsu_aba_1/3 [organisation]   Acoase/IPM_deHydtase [organisation]   Acoase/IPM_deHydtase_lsu_aba [organisation]   Aconitase/3IPM_dehydase_swvl [organisation]   Aconitase/IPMdHydase_lsu_aba_2 [organisation]   Aconitase_4Fe-4S_BS [organisation]   Aconitase_mito-like [organisation]   AconitaseA/IPMdHydase_ssu_swvl [organisation]  
Related proteins : CluSTrQ99798
Domain families : Pfam (Sanger)Aconitase (PF00330)    Aconitase_C (PF00694)   
Domain families : Pfam (NCBI)pfam00330    pfam00694   
DMDM Disease mutations50
Blocks (Seattle)Q99798
Human Protein AtlasENSG00000100412 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99798
HPRD00012
IPIIPI00017855   IPI01009581   IPI00909879   IPI01015355   IPI00382844   IPI00790739   
Protein Interaction databases
DIP (DOE-UCLA)Q99798
IntAct (EBI)Q99798
FunCoupENSG00000100412
BioGRIDACO2
InParanoidQ99798
Interologous Interaction database Q99798
IntegromeDBACO2
STRING (EMBL)ACO2
Ontologies - Pathways
Ontology : AmiGOaconitate hydratase activity  iron ion binding  nucleus  mitochondrion  mitochondrial matrix  generation of precursor metabolites and energy  tricarboxylic acid cycle  tricarboxylic acid cycle  tricarboxylic acid cycle  citrate metabolic process  isocitrate metabolic process  cell death  cellular metabolic process  small molecule metabolic process  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIaconitate hydratase activity  iron ion binding  nucleus  mitochondrion  mitochondrial matrix  generation of precursor metabolites and energy  tricarboxylic acid cycle  tricarboxylic acid cycle  tricarboxylic acid cycle  citrate metabolic process  isocitrate metabolic process  cell death  cellular metabolic process  small molecule metabolic process  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGCitrate cycle (TCA cycle)    Glyoxylate and dicarboxylate metabolism   
Protein Interaction DatabaseACO2
Wikipedia pathwaysACO2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACO2
snp3D : Map Gene to Disease50
SNP (GeneSNP Utah)ACO2
SNP : HGBaseACO2
Genetic variants : HAPMAPACO2
Exome VariantACO2
1000_GenomesACO2 
ICGC programENSG00000100412 
Somatic Mutations in Cancer : COSMICACO2 
CONAN: Copy Number AnalysisACO2 
Mutations and Diseases : HGMDACO2
Genomic VariantsACO2  ACO2 [DGVbeta]
dbVarACO2
ClinVarACO2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM100850    614559   
MedgenACO2
GENETestsACO2
Disease Genetic AssociationACO2
Huge Navigator ACO2 [HugePedia]  ACO2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACO2
Homology/Alignments : Family Browser (UCSC)ACO2
Phylogenetic Trees/Animal Genes : TreeFamACO2
Chemical/Protein Interactions : CTD50
Chemical/Pharm GKB GenePA24443
Clinical trialACO2
Cancer Resource (Charite)ENSG00000100412
Other databases
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
CoreMineACO2
iHOPACO2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:42:21 CEST 2014

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