DGAT2L6 Gene
Diacylglycerol O-Acyltransferase 2-Like 6
Gene Information Card
| Symbol | DGAT2L6 |
|---|---|
| Full Name | Diacylglycerol O-Acyltransferase 2-Like 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 347734 ncbi.nlm.nih.gov/gene/347734 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | Q6ZPD8 |
| OMIM ID | 300539 |
| HGNC ID | 23282 |
| Aliases | DC2, DC2L6, MBOAT7L6, LDC2 |
Description
DGAT2L6 (Diacylglycerol O-Acyltransferase 2-Like 6) is a protein-coding gene belonging to the diacylglycerol acyltransferase (DGAT) family. It encodes an enzyme involved in triglyceride synthesis, catalyzing the final step of triacylglycerol production. The gene is located on the X chromosome and is primarily expressed in testis and certain cancer cell lines. Its function in lipid metabolism and potential roles in disease are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Thyroid | 0.8 | Not detected |
| Adipose tissue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No functional data available
Gain of Function (GOF)
No functional data available
Dominant Negative (DN)
No functional data available
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • integral component of membrane (GO:0016021) |
| • fatty acid metabolic process (GO:0006631) |
Pathways
• Triacylglycerol biosynthesis (Reactome: R-HSA-75109)
Protein Summary
The DGAT2L6 protein is a member of the membrane-bound O-acyltransferase (MBOAT) family. It is predicted to localize to the endoplasmic reticulum and catalyze the acylation of lysophosphatidic acid to form phosphatidic acid, a key step in glycerolipid biosynthesis. The protein is 388 amino acids long and contains multiple transmembrane domains. Its expression is restricted to specific tissues, suggesting a specialized role in lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGAT2L6 Knockout HEK293 Cell Line | EDJ-KQ13144 | Human | 347516 | 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 |
Displaying Records 1 To 4 Of 4 Records
