DEGS2 (delta 4-desaturase, sphingolipid 2)

2016-10-01  

Identity

HGNC
DEGS2
LOCATION
14q32.2
LOCUSID
123099
ALIAS
C14orf66,DES2,FADS8

Other Information

Locus ID:

NCBI: 123099
MIM: 610862
HGNC: 20113
Ensembl: ENSG00000168350

Variants:

dbSNP: 123099
ClinVar: 123099
TCGA: ENSG00000168350
COSMIC: DEGS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168350ENST00000305631Q6QHC5
ENSG00000168350ENST00000553834G3V2F9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

References

Pubmed IDYearTitleCitations
369074372023Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.3
369074372023Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.3
258719752015DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.13
258719752015DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.13
219148082011Dihydroceramide-based response to hypoxia.37
219148082011Dihydroceramide-based response to hypoxia.37
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
150637292004Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.41
150637292004Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.41

Citation

Dessen P

DEGS2 (delta 4-desaturase, sphingolipid 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56355/img/js/lib/welcome