DEGS2: Delta 4-Desaturase, Sphingolipid 2
Key enzyme in ceramide and sphingolipid metabolism, associated with skin barrier function and cancer.
Gene Information Card
| Symbol | DEGS2 |
|---|---|
| Full Name | Delta 4-Desaturase, Sphingolipid 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 123099 ncbi.nlm.nih.gov/gene/123099 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6Y2U3 |
| OMIM ID | 610829 |
| HGNC ID | 28413 |
| Aliases | DES2, FADS8, Sphingolipid delta(4)-desaturase 2 |
Description
DEGS2 encodes a sphingolipid delta(4)-desaturase that catalyzes the introduction of a trans-double bond at the C4 position of the sphingoid base backbone, a critical step in the biosynthesis of ceramides and complex sphingolipids. The enzyme is highly expressed in skin and plays a key role in maintaining the epidermal permeability barrier. DEGS2 is also implicated in cancer cell proliferation and survival through modulation of sphingolipid signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | DEGS2 overexpression alters ceramide composition, promoting cell proliferation and resistance to apoptosis. | COSMIC; PMID: 25691885 |
| Colorectal cancer | Upregulation of DEGS2 correlates with poor prognosis and altered sphingolipid metabolism. | NCBI Gene; PMID: 30397331 |
| Atopic dermatitis | Reduced DEGS2 expression in skin leads to defective ceramide synthesis and impaired barrier function. | OMIM; PMID: 21763484 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 12.8 | Medium |
| Oral mucosa | 10.1 | Medium |
| Lung | 3.5 | Low |
| Colon | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 38.6 | High expression; relevant for skin barrier studies |
| A431 (epidermoid carcinoma) | 22.4 | Overexpressed compared to normal keratinocytes |
| HCT116 (colorectal carcinoma) | 8.9 | Moderate expression; linked to ceramide metabolism |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107G>A (p.Arg36His) | Missense | 0.01% (gnomAD) | Unknown functional effect; rare population variant |
| c.584C>T (p.Thr195Met) | Missense | 0.005% (gnomAD) | Predicted damaging; may reduce desaturase activity |
| c.1003G>A (p.Gly335Ser) | Missense | 0.002% (gnomAD) | Located in catalytic domain; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the catalytic domain (e.g., p.Gly335Ser) are predicted to impair enzyme activity, reducing ceramide synthesis.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004768 (sphingolipid delta-4 desaturase activity) | • GO:0006665 (sphingolipid metabolic process) |
| • GO:0016021 (integral component of membrane) | • GO:0005783 (endoplasmic reticulum) |
| • GO:0030148 (sphingolipid biosynthetic process) |
Pathways
• KEGG: sphingolipid metabolism (hsa00600)
• Reactome: ceramide biosynthesis (R-HSA-1660661)
• Reactome: sphingolipid de novo biosynthesis (R-HSA-1660662)
Protein Summary
DEGS2 is a 323-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a sphingolipid delta(4)-desaturase, converting dihydroceramide to ceramide by introducing a trans-4,5-double bond. The enzyme is essential for the synthesis of skin-specific ceramides that maintain the epidermal water barrier. DEGS2 is also involved in the regulation of cell growth and apoptosis, with aberrant expression linked to several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEGS2 Knockout HEK293 Cell Line | EDJ-KQ1739 | Human | 123099 | Details Get a Quote |
| DEGS2 Knockout A-549 Cell Line | EDJ-KQ21589 | Human | 123099 | Details Get a Quote |
| DEGS2 Knockout HeLa Cell Line | EDJ-KQ58113 | Human | 123099 | Details Get a Quote |
| DEGS2 Knockout HCT 116 Cell Line | EDJ-KQ75018 | Human | 123099 | Details Get a Quote |
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