DEGS2 (delta 4-desaturase, sphingolipid 2)

2016-10-01  

Identity

HGNC
LOCATION
14q32.2
LOCUSID
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

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
150637292004Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.27
219148082011Dihydroceramide-based response to hypoxia.27
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
258719752015DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.4

Citation

Dessen P

DEGS2 (delta 4-desaturase, sphingolipid 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56355/degs2