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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACAT2
acetyl-CoA acetyltransferase 2
Chromosome 6 · 6q25.3
NCBI Gene: 39Ensembl: ENSG00000120437.10HGNC: HGNC:94UniProt: Q9BWD1
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
farnesyl diphosphate biosynthetic process, mevalonate pathwaycytoplasmextracellular exosomeprotein bindingneurodegenerative diseaseintellectual developmental disorder with polymicrogyria and seizuresprostate carcinomaacetyl-CoA acetyltransferase-2 deficiency
✦AI Summary

ACAT2 (acetyl-CoA acetyltransferase 2) is a membrane-bound enzyme that catalyzes the formation of cholesteryl esters from cholesterol and long-chain fatty acyl-CoA substrates, playing crucial roles in cellular cholesterol homeostasis 1. The enzyme exhibits tissue-specific transcriptional regulation by cholesterol, with increased ACAT2 mRNA expression and enzymatic activity observed upon cholesterol loading in human hepatoma cells 2. In monocytic cells, ACAT2 expression is regulated by C/EBP transcription factors and correlates with specific CpG hypomethylation patterns in its promoter region 3. Beyond cholesterol metabolism, ACAT2 demonstrates significant oncogenic functions through diverse mechanisms. In pancreatic cancer, histone lactylation drives ACAT2 transcriptional activation, which subsequently acetylates MTCH2 to disrupt oxidative phosphorylation and promote immunosuppressive cholesterol delivery via extracellular vesicles 4. In KRAS-mutant cancers, ACAT2 catalyzes GCLM lactylation, enhancing glutathione synthesis and conferring ferroptosis resistance 5. In gastric cancer, ACAT2 promotes proliferation and metastasis by upregulating SETD7, which prevents YAP1 ubiquitination and activates YAP1/TAZ-TEAD1 signaling 6. ACAT2 expression is decreased in unstable atherosclerotic plaques compared to stable plaques, suggesting protective vascular roles 7.

Sources cited
1
ACAT2 is a membrane-bound enzyme that catalyzes cholesteryl ester formation and plays important roles in cellular cholesterol homeostasis
PMID: 19141679
2
ACAT2 is transcriptionally regulated by cholesterol with increased mRNA expression and enzymatic activity upon cholesterol loading in human hepatoma cells
PMID: 17950700
3
ACAT2 expression in monocytic cells is regulated by C/EBP transcription factors and correlates with CpG hypomethylation patterns
PMID: 27688151
4
Histone lactylation drives ACAT2 activation, which acetylates MTCH2 and promotes immunosuppressive cholesterol delivery in pancreatic cancer
PMID: 40467104
5
ACAT2 catalyzes GCLM lactylation to enhance glutathione synthesis and confer ferroptosis resistance in KRAS-mutant cancers
PMID: 40503938
6
ACAT2 promotes gastric cancer proliferation and metastasis by upregulating SETD7 and preventing YAP1 ubiquitination
PMID: 38670954
7
ACAT2 expression is decreased in unstable atherosclerotic plaques compared to stable plaques
PMID: 36211422
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
intellectual developmental disorder with polymicrogyria and seizuresOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.15Weak
acetyl-CoA acetyltransferase-2 deficiencyOpen Targets
0.12Weak
ZTTK syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
adolescent idiopathic scoliosisOpen Targets
0.05Suggestive
cutaneous melanomaOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
Insulin resistanceOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
atherosclerosisOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
Schnyder corneal dystrophyOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
neural tube defectOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LSSProtein interaction100%SQLEProtein interaction100%ACOX1Protein interaction100%FDFT1Protein interaction100%MSMO1Protein interaction100%ACOX3Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
78%
Bone Marrow
46%
Lung
24%
Ovary
22%
Heart
12%
Gene Interaction Network
Click a node to explore
ACAT2LSSSQLEACOX1FDFT1MSMO1ACOX3
PROTEIN STRUCTURE
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PDB1WL4 · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.51–0.99]
RankingsWhere ACAT2 stands among ~20K protein-coding genes
  • #6,603of 20,598
    Most Researched71
  • #9,501of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedACAT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Histone lactylation-driven feedback loop modulates cholesterol-linked immunosuppression in pancreatic cancer.
PMID: 40467104
Gut · 2025
1.00
2
GCLM lactylation mediated by ACAT2 promotes ferroptosis resistance in KRAS
PMID: 40503938
Cell Rep · 2025
0.90
3
Acyl-coenzyme A:cholesterol acyltransferases.
PMID: 19141679
Am J Physiol Endocrinol Metab · 2009
0.80
4
Cholesterol regulates ACAT2 gene expression and enzyme activity in human hepatoma cells.
PMID: 17950700
Biochem Biophys Res Commun · 2007
0.70
5
Identification of immune cell infiltration and diagnostic biomarkers in unstable atherosclerotic plaques by integrated bioinformatics analysis and machine learning.
PMID: 36211422
Front Immunol · 2022
0.60