Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
39
Gene name Gene Name - the full gene name approved by the HGNC.
Acetyl-CoA acetyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACAT2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on o
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022395 hsa-miR-124-3p Microarray 18668037
MIRT049046 hsa-miR-92a-3p CLASH 23622248
MIRT761896 hsa-miR-1278 CLIP-seq
MIRT761897 hsa-miR-1279 CLIP-seq
MIRT761898 hsa-miR-133a CLIP-seq
Transcription factors
Transcription factor Regulation Reference
CDX2 Activation 16274362
HNF1A Activation 16274362
HNF4A Unknown 19478207
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IBA
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IDA 7911016
GO:0003985 Function Acetyl-CoA C-acetyltransferase activity IEA
GO:0005515 Function Protein binding IPI 21044950, 25416956, 32296183
GO:0005737 Component Cytoplasm IDA 7911016
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
100678 94 ENSG00000120437
Protein
UniProt ID Q9BWD1
Protein name Acetyl-CoA acetyltransferase, cytosolic (EC 2.3.1.9) (Acetyl-CoA transferase-like protein) (Cytosolic acetoacetyl-CoA thiolase)
Protein function Involved in the biosynthetic pathway of cholesterol.
PDB 1WL4 , 1WL5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00108 Thiolase_N 8 267 Thiolase, N-terminal domain Domain
PF02803 Thiolase_C 274 396 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 degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Butanoate metabolism
Terpenoid backbone biosynthesis
Metabolic pathways
Carbon metabolism
Fatty acid metabolism
Fat digestion and absorption
  Cholesterol biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deficiency Of Acetyl-CoA Acetyltransferase Acetyl-CoA acetyltransferase-2 deficiency, acetyl-CoA acetyltransferase-2 deficiency N/A N/A ClinVar, GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Associate 36750547
Ascites Associate 38178203
Atherosclerosis Associate 19467657
Beta ketothiolase deficiency Inhibit 1346617
Beta ketothiolase deficiency Associate 1346617
Carcinoma Hepatocellular Associate 16274362
Carcinoma Ovarian Epithelial Associate 38178203
Carcinoma Renal Cell Inhibit 26715271
Carcinoma Renal Cell Associate 34513998
Coronary Artery Disease Associate 30696703