Gene Gene information from NCBI Gene database.
Entrez ID 9415
Gene name Fatty acid desaturase 2
Gene symbol FADS2
Synonyms (NCBI Gene)
D6DDES6FADSD6LLCDL2SLL0262TU13
Chromosome 11
Chromosome location 11q12.2
Summary 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 mem
miRNA miRNA information provided by mirtarbase database.
438
miRTarBase ID miRNA Experiments Reference
MIRT001634 hsa-let-7b-5p pSILAC 18668040
MIRT017360 hsa-miR-335-5p Microarray 18185580
MIRT029144 hsa-miR-26b-5p Microarray 19088304
MIRT001634 hsa-let-7b-5p Proteomics;Other 18668040
MIRT001634 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0002538 Process Arachidonate metabolite production involved in inflammatory response IEA
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606149 3575 ENSG00000134824
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95864
Protein name Acyl-CoA 6-desaturase (EC 1.14.19.3) (Delta(6) fatty acid desaturase) (D6D) (Delta(6) desaturase) (Delta-6 desaturase) (Fatty acid desaturase 2)
Protein function Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A (CoA)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00173 Cyt-b5 22 95 Cytochrome b5-like Heme/Steroid binding domain Domain
PF00487 FA_desaturase 156 418 Fatty acid desaturase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with
Sequence
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  alpha-Linolenic acid metabolism
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
  Linoleic acid (LA) metabolism
alpha-linolenic acid (ALA) metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
60
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 23555103
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 29471430, 29917119, 31089142
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 24346170
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 21793953
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic valve stenosis Pubtator 32186652 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25921305
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29193869 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 19944404
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 21933193, 24934276
★★☆☆☆
Found in Text Mining + Unknown/Other Associations