DEGS2 Gene Summary [Human]
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | DEGS2 |
| Official Name | delta 4-desaturase, sphingolipid 2 [Source:HGNC Symbol;Acc:HGNC:20113] |
| Ensembl ID | ENSG00000168350 |
| Bio databases IDs | |
| Aliases | delta 4-desaturase, sphingolipid 2, sphingolipid delta(4)-desaturase 2, dihydroceramide desaturase 2 |
| Synonyms | 2210008A03Rik, C14orf66, delta 4-desaturase, sphingolipid 2, delta(4)-desaturase, sphingolipid 2, DES2, FADS8, RGD1305023, Sphingolipid δ(4)-desaturase/C4-hydroxylase DES2, δ 4-desaturase, sphingolipid 2, δ(4)-desaturase, sphingolipid 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DEGS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sphingolipid delta-4 desaturase
- Membrane-FADS-like
- Fatty acid desaturase
- enzyme
- Sphingolipid Delta4-desaturase (DES)
Pathways
Biological processes and signaling networks where the DEGS2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- androgenic alopecia
- survival
- sudden cardiac arrest
regulates
- ceramide
- C20:0 phytoceramide
- C30:0 phytoceramide
- C22:0 phytoceramide
- sphingolipid
- phytoceramide
- C34:1 phytoceramide
- C26:1 phytoceramide
- t18:0/26:0 ceramide
- C24:1 phytoceramide
role in cell
- proliferation
- cytotoxicity
- accumulation in
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEGS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ceramide biosynthetic process
- sphinganine metabolic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- sphingolipid delta-4 desaturase activity
- sphingosine hydroxylase activity