FADS2: Fatty Acid Desaturase 2 – Key Enzyme in Polyunsaturated Fatty Acid Synthesis
Comprehensive biomedical resource for FADS2 gene, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | FADS2 |
|---|---|
| Full Name | Fatty Acid Desaturase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 9415 ncbi.nlm.nih.gov/gene/9415 |
| Ensembl ID | ENSG00000134824 |
| UniProt ID | O95864 |
| OMIM ID | 606149 |
| HGNC ID | 3575 |
| Aliases | D6D, DES6, FADSD6, SLL0262 |
Description
FADS2 encodes delta-6 desaturase (D6D), a rate-limiting enzyme in the biosynthesis of long-chain polyunsaturated fatty acids (LC-PUFAs) such as arachidonic acid, eicosapentaenoic acid, and docosahexaenoic acid. It catalyzes the desaturation of linoleic acid (18:2n-6) to gamma-linolenic acid (18:3n-6) and alpha-linolenic acid (18:3n-3) to stearidonic acid (18:4n-3). The gene is primarily expressed in liver, brain, and adrenal glands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FADS2 deficiency (OMIM #606149) | Loss-of-function mutations impair LC-PUFA synthesis, leading to neurological and growth abnormalities. | ClinVar, OMIM |
| Metabolic syndrome | Reduced FADS2 activity is associated with altered fatty acid profiles and increased risk of insulin resistance. | NCBI Gene, PubMed |
| Atopic dermatitis | Polymorphisms in FADS2 correlate with lower serum LC-PUFA levels and higher risk of eczema. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Brain | 8.3 | Medium |
| Adrenal gland | 7.1 | Medium |
| Small intestine | 5.9 | Medium |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 6.8 | Neuroblastoma cell line |
| Caco-2 | 5.4 | Colorectal adenocarcinoma cell line |
| HEK293 | 2.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.967C>T (p.Arg323*) | Nonsense | Rare | Loss of function; truncation of D6D enzyme |
| c.1061G>A (p.Arg354His) | Missense | 0.1% in European populations | Reduced enzymatic activity; associated with altered PUFA levels |
| c.1487T>C (p.Leu496Pro) | Missense | <0.01% | Impaired desaturase activity; reported in metabolic syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg323*, p.Arg354His) reduce or abolish delta-6 desaturase activity, impairing LC-PUFA synthesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in FADS2.
Dominant Negative (DN)
No evidence of dominant-negative effects for FADS2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006636 – fatty acid desaturation | • GO:0016215 – delta6-fatty-acid desaturase activity |
| • GO:0005783 – endoplasmic reticulum | • GO:0005504 – iron ion binding |
| • GO:0004768 – stearoyl-CoA 9-desaturase activity |
Pathways
• Alpha-linolenic acid metabolism (KEGG: hsa00592)
• Linoleic acid metabolism (KEGG: hsa00591)
• Biosynthesis of unsaturated fatty acids (KEGG: hsa01040)
Protein Summary
The FADS2 protein (O95864) is a 444-amino acid, membrane-bound desaturase localized to the endoplasmic reticulum. It contains a cytochrome b5-like heme-binding domain and three histidine-rich motifs essential for catalytic activity. The enzyme introduces a double bond at the delta-6 position of 18-carbon fatty acids, a critical step in LC-PUFA production. Structural variants can alter substrate specificity and activity, impacting lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FADS2 Knockout HEK293 Cell Line | EDC09656 | Human | 9415 | Details Get a Quote |
| FADS2 Knockout A-549 Cell Line | EDJ-KQ30799 | Human | 9415 | Details Get a Quote |
| FADS2 Knockout HCT 116 Cell Line | EDJ-KQ30800 | Human | 9415 | Details Get a Quote |
| FADS2 Knockout HeLa Cell Line | EDJ-KQ30801 | Human | 9415 | Details Get a Quote |
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