Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	39
Gene name	Acetyl-CoA acetyltransferase 2
Gene symbol	ACAT2
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6q25.3
Summary	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

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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
MIRT761899	hsa-miR-133b	CLIP-seq
MIRT761900	hsa-miR-2113	CLIP-seq
MIRT761901	hsa-miR-23a	CLIP-seq
MIRT761902	hsa-miR-23b	CLIP-seq
MIRT761903	hsa-miR-23c	CLIP-seq
MIRT761904	hsa-miR-25	CLIP-seq
MIRT761905	hsa-miR-30a	CLIP-seq
MIRT761906	hsa-miR-30b	CLIP-seq
MIRT761907	hsa-miR-30c	CLIP-seq
MIRT761908	hsa-miR-30d	CLIP-seq
MIRT761909	hsa-miR-30e	CLIP-seq
MIRT761910	hsa-miR-3171	CLIP-seq
MIRT761911	hsa-miR-32	CLIP-seq
MIRT761912	hsa-miR-3607-3p	CLIP-seq
MIRT761913	hsa-miR-363	CLIP-seq
MIRT761914	hsa-miR-367	CLIP-seq
MIRT761915	hsa-miR-3909	CLIP-seq
MIRT761916	hsa-miR-3920	CLIP-seq
MIRT761917	hsa-miR-3940-5p	CLIP-seq
MIRT761918	hsa-miR-3941	CLIP-seq
MIRT761919	hsa-miR-4496	CLIP-seq
MIRT761920	hsa-miR-4507	CLIP-seq
MIRT761921	hsa-miR-4643	CLIP-seq
MIRT761922	hsa-miR-466	CLIP-seq
MIRT761923	hsa-miR-4672	CLIP-seq
MIRT761924	hsa-miR-4714-3p	CLIP-seq
MIRT761925	hsa-miR-4789-3p	CLIP-seq
MIRT761926	hsa-miR-496	CLIP-seq
MIRT761927	hsa-miR-548a-5p	CLIP-seq
MIRT761928	hsa-miR-548ab	CLIP-seq
MIRT761929	hsa-miR-548ak	CLIP-seq
MIRT761930	hsa-miR-548b-5p	CLIP-seq
MIRT761931	hsa-miR-548c-5p	CLIP-seq
MIRT761932	hsa-miR-548d-5p	CLIP-seq
MIRT761933	hsa-miR-548h	CLIP-seq
MIRT761934	hsa-miR-548i	CLIP-seq
MIRT761935	hsa-miR-548j	CLIP-seq
MIRT761936	hsa-miR-548k	CLIP-seq
MIRT761937	hsa-miR-548l	CLIP-seq
MIRT761938	hsa-miR-548w	CLIP-seq
MIRT761939	hsa-miR-548y	CLIP-seq
MIRT761940	hsa-miR-559	CLIP-seq
MIRT761941	hsa-miR-629	CLIP-seq
MIRT761942	hsa-miR-758	CLIP-seq
MIRT761943	hsa-miR-9	CLIP-seq
MIRT761944	hsa-miR-92a	CLIP-seq
MIRT761945	hsa-miR-92b	CLIP-seq
MIRT761910	hsa-miR-3171	CLIP-seq
MIRT2165922	hsa-miR-522	CLIP-seq
MIRT761927	hsa-miR-548a-5p	CLIP-seq
MIRT761928	hsa-miR-548ab	CLIP-seq
MIRT761929	hsa-miR-548ak	CLIP-seq
MIRT761930	hsa-miR-548b-5p	CLIP-seq
MIRT761931	hsa-miR-548c-5p	CLIP-seq
MIRT761932	hsa-miR-548d-5p	CLIP-seq
MIRT761933	hsa-miR-548h	CLIP-seq
MIRT761934	hsa-miR-548i	CLIP-seq
MIRT761935	hsa-miR-548j	CLIP-seq
MIRT761936	hsa-miR-548k	CLIP-seq
MIRT761937	hsa-miR-548l	CLIP-seq
MIRT761938	hsa-miR-548w	CLIP-seq
MIRT761939	hsa-miR-548y	CLIP-seq
MIRT761940	hsa-miR-559	CLIP-seq
MIRT2165923	hsa-miR-587	CLIP-seq

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Transcription factor	Regulation	Reference
CDX2	Activation	16274362
HNF1A	Activation	16274362
HNF4A	Unknown	19478207

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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
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7911016
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IC	7911016
GO:0006629	Process	Lipid metabolic process	TAS	7911016
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
100678	94	ENSG00000120437

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

MNAGSDPVVIVSAARTIIGSFNGALAAVPVQDLGSTVIKEVLKRATVAPEDVSEVIFGHV
LAAGCGQNPVRQASVGAGIPYSVPAWSCQMICGSGLKAVCLAVQSIGIGDSSIVVAGGME
NMSKAPHLAYLRTGVKIGEMPLTDSILCDGLTDAFHNCHMGITAENVAKKWQVSREDQDK
VAVLSQNRTENAQKAGHFDKEIVPVLVSTRKGLIEVKTDEFPRHGSNIEAMSKLKPYFLT
DGTGTVTPANASGINDGAAAVVLMKKSEADKRGLTPLARIVSWSQVGVEPSIMGIGPIPA
IKQAVTKAGWSLEDVDIFEINEAFAAVSAAIVKELGLNPEKVNIEGGAIALGHPLGASGC
RILVTLLHTLERMGRSRGVAALCIGGGMGIAMCVQRE

Sequence length

397

Interactions

View interactions

	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

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)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acetyl-CoA acetyltransferase-2 deficiency	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOSOLIC ACETOACETYL-COA THIOLASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ACAT2 (acetyl-CoA acetyltransferase 2)