DEGS2

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
Gene location (Human)
Chr.	Chromosome 14 (human)
End	100,159,645 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	108,668,570 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; bronchial epithelial cell; ; duodenum; ; pancreatic ductal cell; ; oocyte; ; nipple; ; vena cava; ; jejunal mucosa; ; vulva; ; body of stomach;
	Top expressed in
	crypt of lieberkuhn of small intestine; ; pyloric antrum; ; epithelium of stomach; ; duodenum; ; Paneth cell; ; ileum; ; jejunum; ; intestinal villus; ; mucous cell of stomach; ; left colon;
	More reference expression data
	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
	123099
	70059
	ENSG00000168350
	ENSMUSG00000021263
	Q6QHC5
	Q8R2F2
	NM_206918
	NM_001171002; NM_027299
	NP_996801
	NP_001164473; NP_081575
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function[edit]

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.

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168350 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021263 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Delta(4)-desaturase, sphingolipid 2".

Further reading[edit]

Devlin CM, Lahm T, Hubbard WC, Van Demark M, Wang KC, Wu X, Bielawska A, Obeid LM, Ivan M, Petrache I (Nov 2011). "Dihydroceramide-based response to hypoxia". The Journal of Biological Chemistry. 286 (44): 38069–38078. doi:10.1074/jbc.M111.297994. PMC 3207482. PMID 21914808.
Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY, Olgin JE, Tseng ZH (2011). "GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease". BMC Cardiovascular Disorders. 11: 29. doi:10.1186/1471-2261-11-29. PMC 3141757. PMID 21658281.
Mizutani Y, Kihara A, Igarashi Y (Apr 2004). "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation". FEBS Letters. 563 (1–3): 93–97. doi:10.1016/S0014-5793(04)00274-1. PMID 15063729. S2CID 12638946.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168350 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021263 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Delta(4)-desaturase, sphingolipid 2".

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