2. Gene
  3. ACAT2 - acetyl-CoA acetyltransferase 2 Gene

ACAT2 - acetyl-CoA acetyltransferase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 39 | Gene type: protein coding

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 Reference 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 Reference 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_N: Thiolase, N-terminal domain (7 - 267)

Thiolase_C

Thiolase_C: Thiolase, C-terminal domain (274 - 396)

  • 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 Reference
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%

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
Bioactive Molecules (6)
Cat. No. Product Name Effect
Purity Phase
HY-13215 Avasimibe Inhibitor 99.85% Phase 3
HY-100401A Pactimibe sulfate Inhibitor ≥98.0% 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 99.92% Phase 2
HY-100399 Nevanimibe Inhibitor / Phase 2

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