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ACO2 (aconitase 2)

Identity

Other namesACONM
HEL-S-284
ICRD
OCA8
OPA9
HGNC (Hugo) ACO2
LocusID (NCBI) 50
Atlas_Id 46419
Location 22q13.2
Location_base_pair Starts at 41865129 and ends at 41924993 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACO2 (22q13.2) / ACTB (7p22.1)ACO2 (22q13.2) / EZR (6q25.3)ACO2 (22q13.2) / TANGO2 (22q11.21)
ACO2 (22q13.2) / TEF (22q13.2)ACO2 (22q13.2) / ZC3H7B (22q13.2)ACTB (7p22.1) / ACO2 (22q13.2)
ANK2 (4q25) / ACO2 (22q13.2)CDK20 (9q22.1) / ACO2 (22q13.2)COG7 (16p12.2) / ACO2 (22q13.2)
PRAME (22q11.22) / ACO2 (22q13.2)SREBF2 (22q13.2) / ACO2 (22q13.2)SURF4 (9q34.2) / ACO2 (22q13.2)
TOB2 (22q13.2) / ACO2 (22q13.2)ACO2 22q13.2 C22orf25ACO2 22q13.2 / TEF 22q13.2
ACO2 22q13.2 / ZC3H7B 22q13.2PRAME 22q11.22 / ACO2 22q13.2SREBF2 22q13.2 / ACO2 22q13.2

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
GeneCards (Weizmann)ACO2
Ensembl hg19 (Hinxton)ENSG00000100412 [Gene_View]  chr22:41865129-41924993 [Contig_View]  ACO2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100412 [Gene_View]  chr22:41865129-41924993 [Contig_View]  ACO2 [Vega]
ICGC DataPortalENSG00000100412
TCGA cBioPortalACO2
AceView (NCBI)ACO2
Genatlas (Paris)ACO2
WikiGenes50
SOURCE (Princeton)ACO2
Genomic and cartography
GoldenPath hg19 (UCSC)ACO2  -     chr22:41865129-41924993 +  22q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACO2  -     22q13.2   [Description]    (hg38-Dec_2013)
EnsemblACO2 - 22q13.2 [CytoView hg19]  ACO2 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIACO2 [Mapview hg19]  ACO2 [Mapview hg38]
OMIM100850   614559   616289   
Gene and transcription
Genbank (Entrez)AA724140 AK293562 AK296260 AK297213 AK301321
RefSeq transcript (Entrez)NM_001098
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_032143 NT_011520 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 [ EBI - ARRAY_EXPRESS ]   ACO2 [ SEEK ]   ACO2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACO2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99798 (Uniprot)
NextProtQ99798  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ99798
Domaine pattern : Prosite (Expaxy)ACONITASE_1 (PS00450)    ACONITASE_2 (PS01244)   
Domains : Interpro (EBI)Acnase/IPM_dHydase_lsu_aba_1/3    Acoase/IPM_deHydtase    Acoase/IPM_deHydtase_lsu_aba    Aconitase/3IPM_dehydase_swvl    Aconitase/IPMdHydase_lsu_aba_2    Aconitase_4Fe-4S_BS    Aconitase_mito-like    AconitaseA/IPMdHydase_ssu_swvl   
Domain families : Pfam (Sanger)Aconitase (PF00330)    Aconitase_C (PF00694)   
Domain families : Pfam (NCBI)pfam00330    pfam00694   
DMDM Disease mutations50
Blocks (Seattle)ACO2
SuperfamilyQ99798
Human Protein AtlasENSG00000100412
Peptide AtlasQ99798
HPRD00012
IPIIPI00017855   IPI01009581   IPI00909879   IPI01015355   IPI00382844   IPI00790739   
Protein Interaction databases
DIP (DOE-UCLA)Q99798
IntAct (EBI)Q99798
FunCoupENSG00000100412
BioGRIDACO2
STRING (EMBL)ACO2
ZODIACACO2
Ontologies - Pathways
QuickGOQ99798
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  myelin sheath  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  myelin sheath  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGCitrate cycle (TCA cycle)    Glyoxylate and dicarboxylate metabolism   
NDEx Network
Atlas of Cancer Signalling NetworkACO2
Wikipedia pathwaysACO2
Orthology - Evolution
OrthoDB50
GeneTree (enSembl)ENSG00000100412
Phylogenetic Trees/Animal Genes : TreeFamACO2
Homologs : HomoloGeneACO2
Homology/Alignments : Family Browser (UCSC)ACO2
Gene fusions - Rearrangements
Fusion: TCGAACO2 22q13.2 C22orf25 SKCM
Fusion: TCGAACO2 22q13.2 TEF 22q13.2 BRCA
Fusion: TCGAACO2 22q13.2 ZC3H7B 22q13.2 BRCA
Fusion: TCGAPRAME 22q11.22 ACO2 22q13.2 SKCM
Fusion: TCGASREBF2 22q13.2 ACO2 22q13.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerACO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACO2
dbVarACO2
ClinVarACO2
1000_GenomesACO2 
Exome Variant ServerACO2
ExAC (Exome Aggregation Consortium)ACO2 (select the gene name)
SNP (GeneSNP Utah)ACO2
SNP : HGBaseACO2
Genetic variants : HAPMAPACO2
Genomic Variants (DGV)ACO2 [DGVbeta]
Mutations
ICGC Data PortalACO2 
TCGA Data PortalACO2 
Broad Tumor PortalACO2
OASIS PortalACO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACO2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ACO2
DgiDB (Drug Gene Interaction Database)ACO2
DoCM (Curated mutations)ACO2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACO2 (select a term)
intoGenACO2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:41865129-41924993
CONAN: Copy Number AnalysisACO2 
Mutations and Diseases : HGMDACO2
OMIM100850    614559    616289   
MedgenACO2
Genetic Testing Registry ACO2
NextProtQ99798 [Medical]
TSGene50
GENETestsACO2
Huge Navigator ACO2 [HugePedia]  ACO2 [HugeCancerGEM]
snp3D : Map Gene to Disease50
BioCentury BCIQACO2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50
Chemical/Pharm GKB GenePA24443
Clinical trialACO2
Miscellaneous
canSAR (ICR)ACO2 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACO2
GoPubMedACO2
iHOPACO2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:34:32 CEST 2016

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