SOAT2 Gene - Sterol O-Acyltransferase 2
A key enzyme in cholesterol esterification and lipid metabolism
Gene Information Card
| Symbol | SOAT2 |
|---|---|
| Full Name | Sterol O-Acyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 8435 ncbi.nlm.nih.gov/gene/8435 |
| Ensembl ID | ENSG00000167772 |
| UniProt ID | O75908 |
| OMIM ID | 601311 |
| HGNC ID | 11178 |
| Aliases | ACAT2, ARGP2, SOAT2 |
Description
SOAT2 (sterol O-acyltransferase 2) encodes an enzyme that catalyzes the formation of cholesteryl esters from long-chain fatty acyl-CoA and cholesterol. This enzyme is primarily expressed in the liver and intestine and plays a critical role in dietary cholesterol absorption, lipoprotein assembly, and lipid storage. SOAT2 is a key target for therapeutic intervention in atherosclerosis and hypercholesterolemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | SOAT2-mediated cholesteryl ester accumulation in macrophages promotes foam cell formation and plaque development. | NCBI Gene, OMIM |
| Hypercholesterolemia | Increased SOAT2 activity enhances intestinal cholesterol absorption and hepatic VLDL secretion. | NCBI Gene, OMIM |
| Familial Hypobetalipoproteinemia | Loss-of-function variants in SOAT2 may reduce cholesteryl ester synthesis, altering lipoprotein metabolism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small Intestine | 8.3 | Medium |
| Adrenal Gland | 3.1 | Low |
| Adipose Tissue | 2.0 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 9.8 | Colorectal adenocarcinoma cell line |
| THP-1 | 4.5 | Monocytic leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.01% | Reduced enzyme activity |
| c.523G>A (p.Gly175Ser) | Missense | 0.005% | Altered substrate specificity |
| c.788delC | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt catalytic activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • sterol O-acyltransferase activity | • cholesterol esterification |
| • lipid metabolic process | • endoplasmic reticulum membrane |
| • acyltransferase activity |
Pathways
• Cholesterol metabolism
• Lipoprotein metabolism
• Fatty acid metabolism
Protein Summary
SOAT2 is a 522-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the esterification of cholesterol using long-chain fatty acyl-CoA, producing cholesteryl esters for storage or secretion. The enzyme is a homotetramer and is essential for intestinal cholesterol absorption and hepatic lipoprotein assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOAT2 Knockout HEK293 Cell Line | EDJ-KQ5535 | Human | 8435 | Details Get a Quote |
| SOAT2 Knockout HeLa Cell Line | EDJ-KQ54907 | Human | 8435 | Details Get a Quote |
| SOAT2 Knockout A-549 Cell Line | EDJ-KQ63394 | Human | 8435 | Details Get a Quote |
| SOAT2 Knockout HCT 116 Cell Line | EDJ-KQ71862 | Human | 8435 | Details Get a Quote |
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