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
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 108,678,711 bp[2] End 108,702,315 bp[2]
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 • oxidation-reduction 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: 108.68 – 108.7 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.

References

1. GRCh38: Ensembl release 89: ENSG00000168350 - Ensembl, May 2017
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.
5. "Entrez Gene: Delta(4)-desaturase, sphingolipid 2".

Further reading

• 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.

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