ACAT2 - acetyl-CoA acetyltransferase 2 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

製品番号 製品名 アクセッション番号 純度
HY-P71041 ACAT2 Protein, Human (Trx-His) Q9BWD1 (M1-E397) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

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)
製品番号 製品名 製品効果
純度 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 (4)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-100399 Nevanimibe Inhibitor 98.99% Yes
HY-100401A Pactimibe sulfate Inhibitor 98.0% Unkown
HY-N18066 Esculeogenin A Inhibitor / Unkown
HY-13215A Avasimibe sodium Inhibitor / Unkown

Orthologs Information

生物種 Symbol 由来 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