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ACAT2 - acetyl-CoA acetyltransferase 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 39

About ACAT2

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:159,762,045-159,779,112 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 42.3), brain (RPKM 30.7) and 24 other tissues.

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 opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

ACAT2 Products (2)

mRNA	Protein	Name
NM_005891.3	NP_005882.2	acetyl-CoA acetyltransferase, cytosolic isoform 1
NM_001303253.1	NP_001290182.1	acetyl-CoA acetyltransferase, cytosolic isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetyl-CoA C-acetyltransferase activity	IDA IDA: Inferred from direct assay	7911016	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	7911016	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACAT2 Protein Structure

Thiolase_N

Thiolase_C

0
100
200
300
397 a.a.

Protein Preferred Names	Protein Names
acetyl-CoA acetyltransferase, cytosolic	acetoacetyl Coenzyme A thiolase acetyl-CoA transferase-like protein cytosolic acetoacetyl-CoA thiolase

ACAT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACAT2	Q9BWD1	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
Intra	ACAT2	Q9BWD1	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	ACAT2	Q9BWD1	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	ACAT2	Q9BWD1	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACAT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71041	ACAT2 Protein, Human (Trx-His)	Q9BWD1 (M1-E397)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Alpha-Methylacetoacetic Aciduria	Beta-Ketothiolase Deficiency 3-Ketothiolase Deficiency 3-Oxothiolase Deficiency Mitochondrial Acetoacetyl-Coa Thiolase Deficiency Alpha-Methylacetoaceticaciduria Mat Deficiency T2 Deficiency 2-Methyl-3-Hydroxybutyricacidemia Beta Ketothiolase Deficiency Pseudo-Zellweger Syndrome 2-Methyl-3-Hydroxybutyric Acidemia 3-Ktd Deficiency Peroxisomal Thiolase Deficiency 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency 3-Alpha-Oxothiolase Deficiency Methylacetoacetyl-Coenzyme A Thiolase Deficiency Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated Β-Ketothiolase Deficiency Alpha Methylacetoacetic Aciduria Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency 3KTD Aciduria, Alpha-Methylacetoacetic Deficiency Of Acetyl-Coa Acetyltransferase Deficiency Of Acetyl-Coa Acyltransferase Hepatic Methionine Adenosyltransferase Deficiency Bifunctional Peroxisomal Enzyme Deficiency
Acetyl-Coa Acetyltransferase-2 Deficiency	ACAT2D Acat2 Deficiency Acetyl Coa Acetyltransferase 2 Deficiency Acat2 Acetoacetyl Coa Thiolase, Cytosolic Acetocoenzyme A Acetyltransferase 2 Cytosolic Acetoacetyl-Coa Thiolase Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13215	Avasimibe	Inhibitor	99.85%	Phase 3
HY-100401	Pactimibe	Inhibitor	99.98%	Phase 3
HY-100400A	K-604 dihydrochloride	Inhibitor	99.42%	Phase 2
HY-100399A	Nevanimibe hydrochloride	Inhibitor	99.49%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100399	Nevanimibe	Inhibitor	98.99%	Yes
HY-100401A	Pactimibe sulfate	Inhibitor	98.0%	Unkown
HY-N18066	Esculeogenin A	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACAT2	VGNC	VGNC:69059
Bos taurus	ACAT2	VGNC	VGNC:25530
Rattus norvegicus	ACAT2	RGD	RGD:1359366
Canis familiaris	ACAT2	VGNC	VGNC:37499
Others	ACAT2	NCBI