Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ACAA2 (acetyl-CoA acyltransferase 2)

Identity

Alias_namesacetyl-Coenzyme A acyltransferase 2
Alias_symbol (synonym)DSAEC
Other alias
HGNC (Hugo) ACAA2
LocusID (NCBI) 10449
Atlas_Id 60069
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 49783504 and ends at 49813881 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACAA2 (18q21.1) / LOC100505989 ()ACAA2 (18q21.1) / SMG1 (16p12.3)CXorf38 (Xp11.4) / ACAA2 (18q21.1)
MAML1 (5q35.3) / ACAA2 (18q21.1)

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)ACAA2   83
Cards
Entrez_Gene (NCBI)ACAA2  10449  acetyl-CoA acyltransferase 2
AliasesDSAEC
GeneCards (Weizmann)ACAA2
Ensembl hg19 (Hinxton)ENSG00000167315 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167315 [Gene_View]  ENSG00000167315 [Sequence]  chr18:49783504-49813881 [Contig_View]  ACAA2 [Vega]
ICGC DataPortalENSG00000167315
TCGA cBioPortalACAA2
AceView (NCBI)ACAA2
Genatlas (Paris)ACAA2
WikiGenes10449
SOURCE (Princeton)ACAA2
Genetics Home Reference (NIH)ACAA2
Genomic and cartography
GoldenPath hg38 (UCSC)ACAA2  -     chr18:49783504-49813881 -  18q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACAA2  -     18q21.1   [Description]    (hg19-Feb_2009)
GoldenPathACAA2 - 18q21.1 [CytoView hg19]  ACAA2 - 18q21.1 [CytoView hg38]
ImmunoBaseENSG00000167315
genome Data Viewer NCBIACAA2 [Mapview hg19]  
OMIM604770   
Gene and transcription
Genbank (Entrez)AK054673 AK093311 AK225457 AK314462 BC001918
RefSeq transcript (Entrez)NM_006111
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACAA2
Alternative Splicing GalleryENSG00000167315
Gene ExpressionACAA2 [ NCBI-GEO ]   ACAA2 [ EBI - ARRAY_EXPRESS ]   ACAA2 [ SEEK ]   ACAA2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACAA2 [ Firebrowse - Broad ]
GenevisibleExpression of ACAA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10449
GTEX Portal (Tissue expression)ACAA2
Human Protein AtlasENSG00000167315-ACAA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42765   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP42765  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42765
Splice isoforms : SwissVarP42765
PhosPhoSitePlusP42765
Domaine pattern : Prosite (Expaxy)THIOLASE_1 (PS00098)    THIOLASE_2 (PS00737)    THIOLASE_3 (PS00099)   
Domains : Interpro (EBI)Thiolase    Thiolase-like    Thiolase_acyl_enz_int_AS    Thiolase_AS    Thiolase_C    Thiolase_CS    Thiolase_N   
Domain families : Pfam (Sanger)Thiolase_C (PF02803)    Thiolase_N (PF00108)   
Domain families : Pfam (NCBI)pfam02803    pfam00108   
Conserved Domain (NCBI)ACAA2
DMDM Disease mutations10449
Blocks (Seattle)ACAA2
PDB (RSDB)4C2J    4C2K   
PDB Europe4C2J    4C2K   
PDB (PDBSum)4C2J    4C2K   
PDB (IMB)4C2J    4C2K   
Structural Biology KnowledgeBase4C2J    4C2K   
SCOP (Structural Classification of Proteins)4C2J    4C2K   
CATH (Classification of proteins structures)4C2J    4C2K   
SuperfamilyP42765
Human Protein Atlas [tissue]ENSG00000167315-ACAA2 [tissue]
Peptide AtlasP42765
HPRD10380
IPIIPI00001539   
Protein Interaction databases
DIP (DOE-UCLA)P42765
IntAct (EBI)P42765
FunCoupENSG00000167315
BioGRIDACAA2
STRING (EMBL)ACAA2
ZODIACACAA2
Ontologies - Pathways
QuickGOP42765
Ontology : AmiGORNA binding  acetyl-CoA C-acetyltransferase activity  acetyl-CoA C-acetyltransferase activity  acetyl-CoA hydrolase activity  acetyl-CoA C-acyltransferase activity  acetyl-CoA C-acyltransferase activity  acetyl-CoA C-acyltransferase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  cholesterol biosynthetic process  palmitoyl-CoA hydrolase activity  acyl-CoA hydrolase activity  cellular response to hypoxia  myristoyl-CoA hydrolase activity  negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  negative regulation of mitochondrial membrane permeability involved in apoptotic process  
Ontology : EGO-EBIRNA binding  acetyl-CoA C-acetyltransferase activity  acetyl-CoA C-acetyltransferase activity  acetyl-CoA hydrolase activity  acetyl-CoA C-acyltransferase activity  acetyl-CoA C-acyltransferase activity  acetyl-CoA C-acyltransferase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  cholesterol biosynthetic process  palmitoyl-CoA hydrolase activity  acyl-CoA hydrolase activity  cellular response to hypoxia  myristoyl-CoA hydrolase activity  negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  negative regulation of mitochondrial membrane permeability involved in apoptotic process  
Pathways : KEGGBile acid biosynthesis    Benzoate degradation via hydroxylation    Fatty acid elongation in mitochondria    Valine, leucine and isoleucine degradation    Fatty acid metabolism   
NDEx NetworkACAA2
Atlas of Cancer Signalling NetworkACAA2
Wikipedia pathwaysACAA2
Orthology - Evolution
OrthoDB10449
GeneTree (enSembl)ENSG00000167315
Phylogenetic Trees/Animal Genes : TreeFamACAA2
HOGENOMP42765
Homologs : HomoloGeneACAA2
Homology/Alignments : Family Browser (UCSC)ACAA2
Gene fusions - Rearrangements
Fusion : QuiverACAA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACAA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACAA2
dbVarACAA2
ClinVarACAA2
1000_GenomesACAA2 
Exome Variant ServerACAA2
GNOMAD BrowserENSG00000167315
Varsome BrowserACAA2
Genetic variants : HAPMAP10449
Genomic Variants (DGV)ACAA2 [DGVbeta]
DECIPHERACAA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACAA2 
Mutations
ICGC Data PortalACAA2 
TCGA Data PortalACAA2 
Broad Tumor PortalACAA2
OASIS PortalACAA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACAA2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACAA2
Mutations and Diseases : HGMDACAA2
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ACAA2
DgiDB (Drug Gene Interaction Database)ACAA2
DoCM (Curated mutations)ACAA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACAA2 (select a term)
intoGenACAA2
Cancer3DACAA2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604770   
Orphanet
DisGeNETACAA2
MedgenACAA2
Genetic Testing Registry ACAA2
NextProtP42765 [Medical]
TSGene10449
GENETestsACAA2
Target ValidationACAA2
Huge Navigator ACAA2 [HugePedia]
snp3D : Map Gene to Disease10449
BioCentury BCIQACAA2
ClinGenACAA2
Clinical trials, drugs, therapy
Protein Interactions : CTD10449
Pharm GKB GenePA24420
Clinical trialACAA2
Miscellaneous
canSAR (ICR)ACAA2 (select the gene name)
HarmonizomeACAA2
DataMed IndexACAA2
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACAA2
EVEXACAA2
GoPubMedACAA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jul 10 19:53:03 CEST 2020
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