Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9415
Gene name Gene Name - the full gene name approved by the HGNC.
Fatty acid desaturase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FADS2
Synonyms (NCBI Gene) Gene synonyms aliases
D6D, DES6, FADSD6, LLCDL2, SLL0262, TU13
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606149 3575 ENSG00000134824
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acne acne vulgaris N/A N/A GWAS
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Aortic Valve Sclerosis Aortic valve stenosis N/A N/A GWAS
Asthma Nonatopic asthma, Asthma in any disease, Asthma (adult onset), Asthma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35560527
Adenoma Islet Cell Associate 24240437
Aortic Valve Stenosis Associate 32186652
Arthritis Rheumatoid Associate 29193869
Asthma Associate 24934276
Autism Spectrum Disorder Associate 30180836
Autism Spectrum Disorder Inhibit 30180836
Bipolar Disorder Associate 20615514, 28115744, 30531795
Breast Neoplasms Associate 26656090, 37122728
Carcinoma Basal Cell Associate 36496446