ACSS2 Gene: Acetyl-CoA Synthetase 2 - Function, Disease Associations, and Expression
Comprehensive resource on ACSS2 (Acetyl-CoA Synthetase 2): genomic data, protein function, expression, mutations, and related diseases.
Gene Information Card
| Symbol | ACSS2 |
|---|---|
| Full Name | Acyl-CoA synthetase short-chain family member 2 |
| Gene Type | protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 55902 ncbi.nlm.nih.gov/gene/55902 |
| Ensembl ID | ENSG00000131069 |
| UniProt ID | Q9NR19 |
| OMIM ID | 605832 |
| HGNC ID | 15814 |
| Aliases | ACECS2, ACSA, dJ1161H23.1 |
Description
The ACSS2 gene encodes acetyl-CoA synthetase 2, a cytosolic enzyme that catalyzes the conversion of acetate to acetyl-CoA, a key metabolite for lipid synthesis, histone acetylation, and energy production. ACSS2 is involved in metabolic adaptation, particularly in cancer cells, and has been implicated in tumor growth and survival under nutrient stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ACSS2 supports tumor growth by promoting lipid synthesis and histone acetylation from acetate, especially under hypoxia or low nutrient conditions. | High expression in tumors; knockdown reduces tumor growth in models (COSMIC, literature). |
| Hepatocellular carcinoma | ACSS2 overexpression enhances lipogenesis and tumor progression via acetyl-CoA production. | Increased expression in HCC tissues; associated with poor prognosis (COSMIC, literature). |
| Neurodegenerative diseases (Alzheimer's disease) | ACSS2-mediated histone acetylation may influence gene expression related to memory and neurodegeneration. | Altered ACSS2 expression in brain; potential therapeutic target (literature). |
| Metabolic disorders (obesity, diabetes) | ACSS2 regulates acetate metabolism and lipid accumulation, affecting insulin sensitivity. | Genetic variants associated with metabolic traits (ClinVar, literature). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.5 | Low |
| Heart | 6.2 | Low |
| Brain | 5.1 | Low |
| Adipose tissue | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.2 | High expression |
| MCF7 (breast cancer) | 10.4 | Moderate |
| A549 (lung cancer) | 8.9 | Moderate |
| HEK293 (embryonic kidney) | 6.7 | Low |
| K562 (leukemia) | 5.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000G>A (p.Gly334Ser) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.1250C>T (p.Thr417Met) | Missense | 0.005% | Unknown; predicted damaging |
| c.1450delA (p.Lys484fs) | Frameshift | Rare | Loss of function; may affect enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely abolish acetyl-CoA synthetase activity, impairing acetate utilization and lipid synthesis.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression or amplification may enhance enzyme activity in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects; ACSS2 functions as a homodimer, but no dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • acetyl-CoA synthetase activity | • ATP binding |
| • acetate-CoA ligase activity | • nucleus |
| • cytoplasm | • lipid biosynthetic process |
| • histone acetylation | • response to nutrient levels |
Pathways
• Acetate utilization
• Fatty acid biosynthesis
• Histone acetylation
• Metabolic reprogramming in cancer
Protein Summary
ACSS2 is a 701-amino acid protein that converts acetate into acetyl-CoA using ATP. It is primarily cytosolic but can translocate to the nucleus under metabolic stress to provide acetyl-CoA for histone acetylation, thereby regulating gene expression. ACSS2 is highly expressed in lipogenic tissues and many cancers, where it supports tumor growth by promoting lipid synthesis and epigenetic modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSS2 Knockout HEK293 Cell Line | EDJ-KQ12270 | Human | 55902 | Details Get a Quote |
| ACSS2 Knockout A-549 Cell Line | EDJ-KQ41068 | Human | 55902 | Details Get a Quote |
| ACSS2 Knockout HCT 116 Cell Line | EDJ-KQ41069 | Human | 55902 | Details Get a Quote |
| ACSS2 Knockout HeLa Cell Line | EDJ-KQ41070 | Human | 55902 | Details Get a Quote |
| ACSS2 Overexpression Hep-G2 Stable Cell Line | EDC01552 | Human | 55902 | Details Get a Quote |
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