FADS2 Gene Summary [Human]
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Details
| Type | Processed Transcript |
| Official Symbol | FADS2 |
| Official Name | fatty acid desaturase 2 [Source:HGNC Symbol;Acc:HGNC:3575] |
| Ensembl ID | ENSG00000134824 |
| Bio databases IDs | |
| Aliases | fatty acid desaturase 2, delta-6-desaturase |
| Synonyms | 2900042M13Rik, D6D, DES6, Fads2a, Fadsd2, FADSD6, fatty acid desaturase 2, LLCDL2, SLL0262, TU13, δ 6 desaturase |
| 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 FADS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- omega-6 fatty acid desaturase
- stearoyl-CoA 9-desaturase
- Membrane-FADS-like
- fatty acid hydrogen donor:oxygen oxidoreductase
- Fatty acid desaturase
- linoleoyl-CoA desaturase
- Cytochrome b5-like Heme/Steroid binding domain
- CoA desaturase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- adenoma formation
- breast cancer
- acne
- major depression
- asthma
- metabolic disorder
- androgenic alopecia
- bipolar I disorder
role in cell
- expression in
- growth
- quantity
- proliferation
- spermiogenesis
- migration
- lack
- spermatogenesis
- size
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FADS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cellular response to oxidative stress
- unsaturated fatty acid biosynthetic process
- arachidonic acid metabolite production involved in inflammatory response
- lipid metabolic process
- linoleic acid metabolic process
- alpha-linolenic acid metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- stearoyl-CoA 9-desaturase activity
- oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
- linoleoyl-CoA desaturase activity