DGAT2 Gene: Diacylglycerol O-Acyltransferase 2
Key enzyme in triglyceride synthesis, implicated in metabolic disorders and cancer.
Gene Information Card
| Symbol | DGAT2 |
|---|---|
| Full Name | Diacylglycerol O-acyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.5 |
| NCBI Gene ID | 84649 ncbi.nlm.nih.gov/gene/84649 |
| Ensembl ID | ENSG00000062282 |
| UniProt ID | Q96PD7 |
| OMIM ID | 606983 |
| HGNC ID | 16940 |
| Aliases | ARAT, DGAT2A, hDGAT2 |
Description
DGAT2 encodes diacylglycerol O-acyltransferase 2, a key enzyme that catalyzes the final step in triglyceride synthesis by converting diacylglycerol and fatty acyl-CoA into triacylglycerol. It is primarily expressed in adipose tissue, liver, and intestine, and plays a critical role in energy storage, lipid metabolism, and very low-density lipoprotein (VLDL) assembly. DGAT2 is also involved in the synthesis of wax esters and retinyl esters. Dysregulation of DGAT2 has been linked to metabolic disorders such as obesity, insulin resistance, and non-alcoholic fatty liver disease (NAFLD), as well as certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Increased DGAT2 expression promotes hepatic triglyceride accumulation, contributing to steatosis. | ClinVar, PMID: 21820348 |
| Obesity and insulin resistance | DGAT2 overexpression in adipose tissue enhances lipid storage, leading to adipocyte hypertrophy and insulin resistance. | ClinVar, PMID: 20074556 |
| Hepatocellular carcinoma (HCC) | DGAT2 is overexpressed in HCC tissues, supporting tumor growth by providing lipids for membrane synthesis and energy production. | COSMIC, PMID: 28622331 |
| Lipodystrophy | Mutations in DGAT2 may impair triglyceride synthesis, leading to abnormal fat distribution and metabolic complications. | OMIM, PMID: 19299402 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Liver | High | High |
| Small intestine | Medium | Medium |
| Skeletal muscle | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | High | Hepatocyte model; DGAT2 expression correlates with lipid droplet formation. |
| 3T3-L1 (adipocyte) | High | Differentiated adipocytes show high DGAT2 expression. |
| Caco-2 (intestinal) | Medium | Intestinal epithelial cells; involved in dietary fat absorption. |
| MCF7 (breast cancer) | Low | Low expression; not a primary site. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare (MAF <0.01) | May affect enzyme activity; associated with lipodystrophy in some studies. |
| c.388G>A (p.Val130Ile) | Missense | Rare (MAF <0.01) | Potential impact on substrate specificity; clinical significance uncertain. |
| c.715A>G (p.Thr239Ala) | Missense | Rare (MAF <0.01) | Reported in cancer samples; functional impact unknown. |
| c.1042C>T (p.Arg348Trp) | Missense | Rare (MAF <0.01) | Associated with altered lipid metabolism in cell assays. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DGAT2 are rare and may impair triglyceride synthesis, leading to lipodystrophy and metabolic abnormalities. Evidence from ClinVar and OMIM.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; however, overexpression of wild-type DGAT2 is observed in cancers and metabolic diseases, suggesting a potential oncogenic role.
Dominant Negative (DN)
No dominant-negative mutations have been reported for DGAT2.
View complete mutation data：
Gene Ontology (GO)
| • diacylglycerol O-acyltransferase activity | • acyltransferase activity |
| • lipid metabolic process | • triglyceride biosynthetic process |
| • very-low-density lipoprotein particle assembly | • endoplasmic reticulum membrane |
Pathways
• Triglyceride biosynthesis
• Fatty acid metabolism
• PPAR signaling pathway
• Glycerolipid metabolism
Protein Summary
DGAT2 is a 388-amino acid integral membrane protein localized to the endoplasmic reticulum. It contains a conserved diacylglycerol acyltransferase domain and is responsible for the final acylation step in triglyceride synthesis. The enzyme uses diacylglycerol and fatty acyl-CoA as substrates, and its activity is regulated by nutritional status and hormonal signals. DGAT2 is essential for normal lipid storage, and its dysregulation contributes to metabolic diseases and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGAT2 Knockout HEK293 Cell Line | EDJ-KQ2928 | Human | 84649 | Details Get a Quote |
| DGAT2L6 Knockout HEK293 Cell Line | EDJ-KQ13144 | Human | 347516 | Details Get a Quote |
| DGAT2 Knockout A-549 Cell Line | EDJ-KQ24034 | Human | 84649 | Details Get a Quote |
| DGAT2 Knockout HCT 116 Cell Line | EDJ-KQ24035 | Human | 84649 | Details Get a Quote |
| DGAT2 Knockout HeLa Cell Line | EDJ-KQ24036 | Human | 84649 | Details Get a Quote |
| DGAT2L6 Knockout HeLa Cell Line | EDJ-KQ59818 | Human | 347516 | Details Get a Quote |
| DGAT2L6 Knockout A-549 Cell Line | EDJ-KQ68287 | Human | 347516 | Details Get a Quote |
| DGAT2L6 Knockout HCT 116 Cell Line | EDJ-KQ76661 | Human | 347516 | Details Get a Quote |
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