FADS3 (fatty acid desaturase 3)

2014-11-01  

Identity

HGNC
FADS3
LOCATION
11q12.2
LOCUSID
3995
ALIAS
CYB5RP,LLCDL3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3995
MIM: 606150
HGNC: 3576
Ensembl: ENSG00000221968

Variants:

dbSNP: 3995
ClinVar: 3995
TCGA: ENSG00000221968
COSMIC: FADS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000221968ENST00000278829Q9Y5Q0
ENSG00000221968ENST00000278829A0A024R564
ENSG00000221968ENST00000525094H0YCN1
ENSG00000221968ENST00000525588E9PS00
ENSG00000221968ENST00000527379H0YED5
ENSG00000221968ENST00000527697E9PKP8
ENSG00000221968ENST00000531956E9PQC2
ENSG00000221968ENST00000534223E9PPZ4

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

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
191482762009Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.156
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
197500042009A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia.77
213668652011Genetic variation in polyunsaturated fatty acid metabolism and its potential relevance for human development and health.40
205624402010FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population.37
210409142011FADS gene polymorphisms in Koreans: association with ω6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease.31
223980252013Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts.25
228776552013Umbilical cord PUFA are determined by maternal and child fatty acid desaturase (FADS) genetic variants in the Avon Longitudinal Study of Parents and Children (ALSPAC).22

Citation

Dessen P

FADS3 (fatty acid desaturase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62972/fads3