ACOT2: Acyl-CoA Thioesterase 2
Mitochondrial acyl-CoA thioesterase involved in lipid metabolism and energy homeostasis
Gene Information Card
| Symbol | ACOT2 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 10965 ncbi.nlm.nih.gov/gene/10965 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P49753 |
| OMIM ID | 609949 |
| HGNC ID | 18194 |
| Aliases | MTE1, PTE2, PTE-2, CTE1a, ACOT2 |
Description
ACOT2 encodes a mitochondrial acyl-CoA thioesterase that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. This enzyme plays a key role in lipid metabolism, mitochondrial beta-oxidation regulation, and energy homeostasis. It is highly expressed in tissues with high oxidative capacity such as liver, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered lipid metabolism and energy expenditure | PMID: 21880737 |
| Type 2 Diabetes | Dysregulation of fatty acid oxidation | PMID: 23493555 |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Impaired mitochondrial acyl-CoA handling | PMID: 25620668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 6.7 | Low |
| Kidney | 5.1 | Low |
| Adipose Tissue | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 4.8 | Embryonic kidney cells |
| HeLa | 3.1 | Cervical cancer cells |
| MCF7 | 1.9 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0004 | Reduced enzymatic activity |
| c.524A>G (p.Asn175Ser) | Missense | 0.0001 | Unknown functional effect |
| c.788G>A (p.Arg263Gln) | Missense | 0.0002 | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
p.Arg113Trp reduces catalytic activity in vitro (UniProt).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003985 - acetyl-CoA hydrolase activity | • GO:0005739 - mitochondrion |
| • GO:0006631 - fatty acid metabolic process | • GO:0016290 - palmitoyl-CoA hydrolase activity |
| • GO:0042765 - coenzyme A metabolic process |
Pathways
• Fatty acid degradation (KEGG: hsa00071)
• Peroxisome proliferator-activated receptor (PPAR) signaling pathway (KEGG: hsa03320)
• Mitochondrial beta-oxidation
Protein Summary
ACOT2 is a 49 kDa mitochondrial protein belonging to the acyl-CoA thioesterase family. It hydrolyzes medium- to long-chain acyl-CoAs, regulating the intracellular pool of free fatty acids and CoA. The enzyme is a homodimer and is induced by peroxisome proliferators. Its activity is implicated in thermogenesis and lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT2 Knockout HEK293 Cell Line | EDJ-KQ7229 | Human | 10965 | Details Get a Quote |
| ACOT2 Knockout A-549 Cell Line | EDJ-KQ32201 | Human | 10965 | Details Get a Quote |
| ACOT2 Knockout HeLa Cell Line | EDJ-KQ32202 | Human | 10965 | Details Get a Quote |
| ACOT2 Knockout HCT 116 Cell Line | EDJ-KQ72478 | Human | 10965 | Details Get a Quote |
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