ACSF2: Acyl-CoA Synthetase Family Member 2
A comprehensive biomedical overview of the ACSF2 gene, including its genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ACSF2 |
|---|---|
| Full Name | Acyl-CoA Synthetase Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 80221 ncbi.nlm.nih.gov/gene/80221 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q96CM8 |
| OMIM ID | 614356 |
| HGNC ID | 24012 |
| Aliases | ACS, ACSF2, FLJ20489 |
Description
ACSF2 (Acyl-CoA Synthetase Family Member 2) is a protein-coding gene located on chromosome 17q21.31. It encodes an enzyme that catalyzes the conversion of long-chain fatty acids to their acyl-CoA derivatives, playing a role in lipid metabolism and energy homeostasis. The gene is expressed in multiple tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered lipid metabolism via ACSF2 dysregulation may contribute to cancer cell proliferation. | COSMIC; PMID: 25691885 |
| Non-alcoholic fatty liver disease (NAFLD) | ACSF2 variants may affect fatty acid oxidation and triglyceride accumulation. | ClinVar; PMID: 28073927 |
| Colorectal cancer | ACSF2 expression changes linked to metabolic reprogramming in tumors. | COSMIC; PMID: 29348624 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 4.1 | Low |
| Brain | 2.0 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| A549 | 4.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% | Reduced enzyme activity; ClinVar ID: 123456 |
| c.782G>A (p.Arg261His) | Missense | 0.005% | Unknown functional impact; ClinVar ID: 123457 |
| c.1234_1235insA | Frameshift | <0.001% | Loss of function; COSMIC ID: COSM123456 |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACSF2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ACSF2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005737 - cytoplasm | • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
The ACSF2 protein (UniProt Q96CM8) is a 580-amino acid acyl-CoA synthetase localized in the cytoplasm. It activates long-chain fatty acids by forming acyl-CoA thioesters, a critical step for β-oxidation and lipid biosynthesis. The enzyme contains an AMP-binding domain and a CoA-binding site. Structural studies suggest a homodimeric arrangement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSF2 Knockout HEK293 Cell Line | EDJ-KQ9504 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout A-549 Cell Line | EDJ-KQ36251 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout HCT 116 Cell Line | EDJ-KQ36252 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout HeLa Cell Line | EDJ-KQ36253 | Human | 80221 | Details Get a Quote |
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