Gene Gene information from NCBI Gene database.
Entrez ID 10449
Gene name Acetyl-CoA acyltransferase 2
Gene symbol ACAA2
Synonyms (NCBI Gene)
DSAECT1
Chromosome 18
Chromosome location 18q21.1
Summary The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
654
miRTarBase ID miRNA Experiments Reference
MIRT002662 hsa-miR-124-3p MicroarrayqRT-PCR 16549876
MIRT002662 hsa-miR-124-3p Microarray 15685193
MIRT002662 hsa-miR-124-3p Microarray 18668037
MIRT002662 hsa-miR-124-3p qRT-PCR 16549876
MIRT029760 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IBA
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IDA 25478839
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IEA
GO:0003986 Function Acetyl-CoA hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604770 83 ENSG00000167315
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42765
Protein name 3-ketoacyl-CoA thiolase, mitochondrial (EC 2.3.1.16) (Acetyl-CoA acetyltransferase) (EC 2.3.1.9) (Acetyl-CoA acyltransferase) (Acyl-CoA hydrolase, mitochondrial) (EC 3.1.2.-, EC 3.1.2.1, EC 3.1.2.2) (Beta-ketothiolase) (Mitochondrial 3-oxoacyl-CoA thiolas
Protein function In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catal
PDB 4C2J , 4C2K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00108 Thiolase_N 7 266 Thiolase, N-terminal domain Domain
PF02803 Thiolase_C 273 395 Thiolase, C-terminal domain Domain
Sequence
Sequence length 397
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Fatty acid degradation
Valine, leucine and isoleucine degradation
Metabolic pathways
Fatty acid metabolism
  Mitochondrial Fatty Acid Beta-Oxidation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTERIOR UVEITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 3469675
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Aortic valve disease Pubtator 27250500 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoid Tumor Carcinoid tumor Pubtator 37798372 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28977850
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37310146 Associate
★☆☆☆☆
Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase Deficiency Of Acetyl-CoA Acetyltransferase BEFREE 11161836, 24706027, 25231369, 28220263
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 36162992 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32280672 Associate
★☆☆☆☆
Found in Text Mining only
Ketosis Ketosis BEFREE 16950638
★☆☆☆☆
Found in Text Mining only