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DEGS2

From Wikipedia, the free encyclopedia
Protein-coding gene in humans
DEGS2
Identifiers
AliasesDEGS2, C14orf66, DES2, FADS8, delta(4)-desaturase, sphingolipid 2, delta 4-desaturase, sphingolipid 2
External IDsOMIM:610862;MGI:1917309;HomoloGene:23617;GeneCards:DEGS2;OMA:DEGS2 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for DEGS2
Genomic location for DEGS2
Band14q32.2Start100,143,957bp[1]
End100,159,645bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for DEGS2
Genomic location for DEGS2
Band12|12 F1Start108,644,970bp[2]
End108,668,570bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 12: 108.64 – 108.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Delta(4)-desaturase, sphingolipid 2 is aprotein that in humans is encoded by the DEGS2gene.[5]

Function

[edit]

This gene encodes a bifunctional enzyme that is involved in thebiosynthesis ofsphingolipids 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]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000168350 –Ensembl, May 2017
  2. ^abcGRCm38: 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

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


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