• Gene id: 123099

Gene Summary

• Gene Symbol: DEGS2   Gene   UCSC   Ensembl
• Aliases: C14orf66, DES2, FADS8
• Gene name: delta 4-desaturase, sphingolipid 2
• Alternate names: sphingolipid delta(4)-desaturase/C4-monooxygenase DES2, degenerative spermatocyte homolog 2, lipid desaturase, dihydroceramide desaturase 2, sphingolipid 4-desaturase, sphingolipid C4-hydroxylase/delta 4-desaturase, sphingolipid C4-monooxygenase, sphingolipid d,
• Gene location: 14q32.2 (100166885: 100143956)     Exons: 5     NC_000014.9
• Gene summary(Entrez): This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids 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-hy
• OMIM: 610862

Protein Summary

• Protein general information: Q6QHC5  
  • Name: Sphingolipid delta(4) desaturase/C4 monooxygenase DES2 (EC 1.14.18.5) (EC 1.14.19.17) (Degenerative spermatocyte homolog 2) (Sphingolipid 4 desaturase) (Sphingolipid C4 monooxygenase)
  • Length: 323  
  • Mass: 37197
  • Tissue specificity: Highly expressed in skin, intestine and kidney. {ECO
• Sequence:

  MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWLVRGLAWRWLLFWAYA
  FGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPYAASFKKYHVDHHRYLGGDGLDVDVPTRLEG
  WFFCTPARKLLWLVLQPFFYSLRPLCVHPKAVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPI
  SGHFVAEHYMFLKGHETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDF
  VFEDSLGPYARVKRVYRLAKDGL

• Structural information:
  • Interpro: IPR011388  IPR005804  IPR013866  
  • CDD: cd03508
  • STRING: ENSP00000307126
• Other Databases: GeneCards:  DEGS2  Malacards:  DEGS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000170	sphingosine hydroxylase activity	IBA	molecular function
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0042284	sphingolipid delta-4 desaturase activity	IBA	molecular function
GO:0006667	sphinganine metabolic process	IBA	biological process
GO:0042284	sphingolipid delta-4 desaturase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000170	sphingosine hydroxylase activity	TAS	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0006667	sphinganine metabolic process	IEA	biological process
GO:0042284	sphingolipid delta-4 desaturase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030148	sphingolipid biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq