DEGS2
Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2
Also known as: C14orf66, DEGS2_HUMAN, DES2, FADS8
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6QHC5
- Gene
- DEGS2
- Ensembl
- ENSG00000168350
- Chromosome
- 14
- Canonical length
- 323 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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-hydroxylase. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
323 residues, UniProt reviewed canonical sequence.
>Q6QHC5|DEGS2
1 MGNSASRSDF EWVYTDQPHT QRRKEILAKY PAIKALMRPD PRLKWAVLVL VLVQMLACWL
61 VRGLAWRWLL FWAYAFGGCV NHSLTLAIHD ISHNAAFGTG RAARNRWLAV FANLPVGVPY
121 AASFKKYHVD HHRYLGGDGL DVDVPTRLEG WFFCTPARKL LWLVLQPFFY SLRPLCVHPK
181 AVTRMEVLNT LVQLAADLAI FALWGLKPVV YLLASSFLGL GLHPISGHFV AEHYMFLKGH
241 ETYSYYGPLN WITFNVGYHV EHHDFPSIPG YNLPLVRKIA PEYYDHLPQH HSWVKVLWDF
301 VFEDSLGPYA RVKRVYRLAK DGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEGS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 52 nTPM
Expression across tissuesHPA
Tissue
- skin: 52 nTPM
- esophagus: 37 nTPM
- small intestine: 33 nTPM
- cerebellum: 26 nTPM
- duodenum: 23 nTPM
- stomach: 19 nTPM
Single-cell type
- esophageal apical cells: 508 nCPM
- enterocytes: 268 nCPM
- esophageal suprabasal cells: 243 nCPM
- respiratory secretory cells: 173 nCPM
- respiratory ciliated cells: 138 nCPM
- oocytes: 101 nCPM
Immune cell
- memory B-cell: 11 nTPM
- naive B-cell: 6.9 nTPM
- eosinophil: 6.7 nTPM
- basophil: 3.5 nTPM
- gdT-cell: 1.6 nTPM
- naive CD8 T-cell: 1 nTPM
Brain region
- cerebellum: 35 nTPM
- basal ganglia: 11 nTPM
- amygdala: 9.6 nTPM
- pons: 9.2 nTPM
- cerebral cortex: 8.6 nTPM
- medulla oblongata: 8.5 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.21
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.27
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ceramide biosynthetic process
- sphingolipid biosynthetic process
- sphinganine metabolic process
Molecular functions
- sphingolipid delta-4 desaturase activity
- sphingolipid C4-monooxygenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEGS2 as an antibody target. Whether an autoantibody or antibody against DEGS2 could matter depends on whether native DEGS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEGS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DEGS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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