DEGS2

Delta(4)-desaturase, sphingolipid 2 is a protein that in humans is encoded by the DEGS2 gene.^[5]

DEGS2
Identifiers
Aliases	DEGS2, C14orf66, DES2, FADS8, delta(4)-desaturase, sphingolipid 2, delta 4-desaturase, sphingolipid 2
External IDs	OMIM: 610862; MGI: 1917309; HomoloGene: 23617; GeneCards: DEGS2; OMA:DEGS2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.2 Start 100,143,957 bp[1] End 100,159,645 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 F1 Start 108,644,970 bp[2] End 108,668,570 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm skin of leg skin of abdomen bronchial epithelial cell olfactory zone of nasal mucosa mucosa of transverse colon right hemisphere of cerebellum nasal epithelium duodenum pancreatic ductal cell Top expressed in crypt of lieberkuhn of small intestine pyloric antrum epithelium of stomach right kidney duodenum Paneth cell ileum transitional epithelium of urinary bladder jejunum intestinal villus More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity sphingosine hydroxylase activity sphingolipid delta-4 desaturase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process sphingolipid biosynthetic process sphinganine metabolic process lipid metabolism ceramide biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 123099 70059 Ensembl ENSG00000168350 ENSMUSG00000021263 UniProt Q6QHC5 Q8R2F2 RefSeq (mRNA) NM_206918 NM_001171002 NM_027299 RefSeq (protein) NP_996801 NP_001164473 NP_081575 Location (UCSC) Chr 14: 100.14 – 100.16 Mb Chr 12: 108.64 – 108.67 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of sphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase.