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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACAA2
acetyl-CoA acyltransferase 2
Chromosome 18 · 18q21.1
NCBI Gene: 10449Ensembl: ENSG00000167315.19HGNC: HGNC:83UniProt: B3KNP8
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to hypoxiaacetyl-CoA C-acetyltransferase activitymitochondrionacetyl-CoA C-acyltransferase activitybone remodeling diseasesinusitiskidney diseaserefractive error
✦AI Summary

ACAA2 (acetyl-CoA acyltransferase 2) is a mitochondrial enzyme that catalyzes the final step of fatty acid β-oxidation, cleaving medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and shortened fatty acyl-CoA molecules 1. The enzyme plays a critical role in energy metabolism by facilitating fatty acid oxidation, particularly during metabolic stress conditions 2. ACAA2 expression is regulated by transcription factors including KLF15 and PPARα, and its loss contributes to metabolic dysfunction in kidney injury models 1. The protein undergoes post-translational modifications including palmitoylation, which governs its subcellular localization and function in hepatic stellate cells 3. In disease contexts, ACAA2 shows complex roles: it acts as a tumor suppressor in renal cell carcinoma with higher expression associated with better prognosis and enhanced immune infiltration 4, while serving as an oncogene in ovarian cancer where it promotes malignant progression 5. ACAA2 is elevated in small-cell neuroendocrine cancers, making it a potential diagnostic marker 6. Additionally, ACAA2 demonstrates protective effects against liver fibrosis through regulation of hepatic stellate cell ferroptosis, and shows divergent expression patterns between cancer and neurodegenerative diseases, suggesting its role as a metabolic mediator in disease crosstalk 7.

Sources cited
1
ACAA2 catalyzes final step of fatty acid β-oxidation and is regulated by KLF15 and PPARα
PMID: 34634362
2
ACAA2 plays critical role in energy metabolism and is regulated by CAND1 in NAFLD
PMID: 37528093
3
ACAA2 acts as tumor suppressor in renal cell carcinoma with better prognosis
PMID: 36829161
4
ACAA2 functions as oncogene in ovarian cancer promoting malignant progression
PMID: 38656551
5
ACAA2 is elevated in small-cell neuroendocrine cancers as potential diagnostic marker
PMID: 37798372
6
ACAA2 palmitoylation governs subcellular localization and protects against liver fibrosis
PMID: 41564793
7
ACAA2 shows divergent expression between cancer and neurodegenerative diseases
PMID: 41327072
Disease Associationsⓘ20
bone remodeling diseaseOpen Targets
0.31Weak
sinusitisOpen Targets
0.30Weak
kidney diseaseOpen Targets
0.16Weak
refractive errorOpen Targets
0.14Weak
myopiaOpen Targets
0.11Weak
connective tissue neoplasmOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Abnormality of refractionOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
corneal diseaseOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
endocrine system diseaseOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
diaphragm diseaseOpen Targets
0.06Suggestive
prostate cancerOpen Targets
0.05Suggestive
small cell lung carcinomaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACADLProtein interaction100%ACADMProtein interaction100%ACADSProtein interaction100%ACADSBProtein interaction100%DBTProtein interaction100%GCDHProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
22%
Brain
13%
Lung
8%
Ovary
5%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
ACAA2ACADLACADMACADSACADSBDBTGCDH
PROTEIN STRUCTURE
Preparing viewer…
PDB4C2J · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.63–1.15]
RankingsWhere ACAA2 stands among ~20K protein-coding genes
  • #5,710of 20,598
    Most Researched83
  • #11,948of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedACAA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of energy metabolism by long-chain fatty acids.
PMID: 24362249
Prog Lipid Res · 2014
1.00
2
Cullin-associated and neddylation-dissociated protein 1 (CAND1) alleviates NAFLD by reducing ubiquitinated degradation of ACAA2.
PMID: 37528093
Nat Commun · 2023
0.90
3
Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation.
PMID: 34634362
Kidney Int · 2021
0.80
4
The oncogenic role and regulatory mechanism of ACAA2 in human ovarian cancer.
PMID: 38656551
Mol Carcinog · 2024
0.70
5
Metabolic classifications of renal cell carcinoma reveal intrinsic connections with clinical and immune characteristics.
PMID: 36829161
J Transl Med · 2023
0.60