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Gene Review

DEGS2  -  delta(4)-desaturase, sphingolipid 2

Homo sapiens

Synonyms: C14orf66, DES2, Degenerative spermatocyte homolog 2, FADS8, Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
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High impact information on DEGS2

  • We now show that in X. leavis oocytes RIC-3 also affects the kinetics and agonist affinity properties of the DEG-3/DES-2 receptor [1].
  • Effects of RIC-3 on DEG-3/DES-2 functional expression are found in vivo and following heterologous expression in Xenopus leavis oocytes [1].
  • Furthermore, up-regulation of hDES2 mRNA expression and subsequent phytoceramide production were observed during vitamin C/serum-induced differentiation of human keratinocytes [2].
  • After I.V. administration, the enantiomers of desmethylnefopam exhibited lower concentrations and longer half-lives (20.0 h for DES1 and 25.3 h for DES2) relative to nefopam enantiomers [3].

Biological context of DEGS2


Regulatory relationships of DEGS2

  • In agreement with this, mammals express a RIC-3 transcript lacking the coiled-coil domain that is capable of promoting DEG-3/DES-2 functional expression [1].

Analytical, diagnostic and therapeutic context of DEGS2

  • Northern blot analyses of hDES2 revealed high expression in skin, intestines, and kidney, sites reportedly possessing high levels of phytosphingolipids [2].
  • Also, nefopam is metabolized by N-demethylation but it is not known whether the desmethylnefopam enantiomers (DES1 and DES2) are present in plasma following intravenous (I.V.) or oral administration of parent drug [3].


  1. RIC-3 affects properties and quantity of nicotinic acetylcholine receptors via a mechanism that does not require the coiled-coil domains. Ben-Ami, H.C., Yassin, L., Farah, H., Michaeli, A., Eshel, M., Treinin, M. J. Biol. Chem. (2005) [Pubmed]
  2. Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. Mizutani, Y., Kihara, A., Igarashi, Y. FEBS Lett. (2004) [Pubmed]
  3. Effect of route of administration on the pharmacokinetic behavior of enantiomers of nefopam and desmethylnefopam. Chawla, J., Le Guern, M.E., Alquier, C., Kalhorn, T.F., Levy, R.H. Therapeutic drug monitoring. (2003) [Pubmed]
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