FADS2 (fatty acid desaturase 2)

2007-02-01  

Identity

HGNC
FADS2
LOCATION
11q12.2
LOCUSID
9415
ALIAS
D6D,DES6,FADSD6,LLCDL2,SLL0262,TU13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9415
MIM: 606149
HGNC: 3575
Ensembl: ENSG00000134824

Variants:

dbSNP: 9415
ClinVar: 9415
TCGA: ENSG00000134824
COSMIC: FADS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134824ENST00000257261O95864
ENSG00000134824ENST00000278840O95864
ENSG00000134824ENST00000355484F5H622
ENSG00000134824ENST00000517312E5RGD8
ENSG00000134824ENST00000517839E5RHL3
ENSG00000134824ENST00000518606E5RGZ5
ENSG00000134824ENST00000521571F5GZ92
ENSG00000134824ENST00000521849O95864
ENSG00000134824ENST00000522056O95864
ENSG00000134824ENST00000522639F5GZU2
ENSG00000134824ENST00000574708F5GZU2

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
alpha-Linolenic acid metabolismKEGGko00592
Biosynthesis of unsaturated fatty acidsKEGGko01040
PPAR signaling pathwayKEGGko03320
alpha-Linolenic acid metabolismKEGGhsa00592
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
PPAR signaling pathwayKEGGhsa03320
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106
Linoleic acid (LA) metabolismREACTOMER-HSA-2046105

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseLiterature, MultilinkAnnotationassociated24934276

References

Pubmed IDYearTitleCitations
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.552
190609112009Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.392
190609102009Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.337
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
166701582006Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.169
166701582006Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.169
191482762009Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.156
188427802008FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease.102
188427802008FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease.102
209804882011Erythrocyte membrane phospholipid fatty acids, desaturase activity, and dietary fatty acids in relation to risk of type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam Study.94

Citation

Dessen P

FADS2 (fatty acid desaturase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46480/fads2