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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DEGS2
delta 4-desaturase, sphingolipid 2
Chromosome 14 · 14q32.2
NCBI Gene: 123099Ensembl: ENSG00000168350.8HGNC: HGNC:20113UniProt: Q6QHC5
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ceramide biosynthetic processsphingolipid delta-4 desaturase activitysphinganine metabolic processendoplasmic reticulum membranedementiahyperpituitarismsensorineural hearing lossatrophic gastritis
✦AI Summary

DEGS2 (delta 4-desaturase, sphingolipid 2) is a bifunctional enzyme localized to the endoplasmic reticulum that catalyzes both sphingolipid delta-4 desaturation and C4-monooxygenation activities 1. The enzyme primarily converts dihydrosphingosine-ceramides to phytosphingosine-ceramides (PHS-CERs) via hydroxylation, with preferential activity toward substrates containing very-long-chain fatty acids (≥C21) 1. DEGS2 expression is tightly regulated by inflammatory cytokines: Th2 cytokines upregulate DEGS2 in keratinocytes, while Th1/Th17 cytokines downregulate it, contributing to distinct lipid barrier alterations in atopic dermatitis versus psoriasis 2. Mechanistically, DEGS2-synthesized phytoceramides activate PI3K-AKT signaling to promote cancer stem cell traits in prostate cancer 3, while m6A methylation-mediated DEGS2 upregulation suppresses ceramide synthesis in colorectal cancer progression 4. Genetic variants in DEGS2 (rs3783332, rs7157599) are associated with cognitive deficits in schizophrenia and regulate DEGS2 brain expression 5. In eosinophilic esophagitis, decreased DEGS2 expression correlates with altered sphingolipid composition and epithelial barrier dysfunction 6. DEGS2's role in ceramide biosynthesis is essential for maintaining epithelial integrity while also contributing to pathological conditions including cancer progression, inflammatory skin diseases, and gastrointestinal disorders.

Sources cited
1
DEGS2 is a bifunctional enzyme with desaturase and hydroxylase activities; demonstrates higher hydroxylase activity toward very-long-chain fatty acid substrates in PHS-CER production
PMID: 36907437
2
Th2 cytokines upregulate DEGS2 in keratinocytes while Th1/Th17 cytokines downregulate it; contributes to distinct lipid barrier alterations in atopic dermatitis versus psoriasis
PMID: 40046180
3
DEGS2 enhances prostate cancer stem-like traits through phytoceramide-mediated PI3K-AKT signaling pathway; upregulated in castration-resistant prostate cancer stem cells
PMID: 40380873
4
m6A methylation-mediated DEGS2 upregulation suppresses ceramide synthesis and promotes colorectal cancer proliferation, invasion and metastasis
PMID: 34363020
5
DEGS2 genetic variants (rs3783332, rs7157599) associated with cognitive deficits in schizophrenia regulate DEGS2 expression in brain tissue
PMID: 25871975
6
DEGS2 expression is significantly decreased in eosinophilic esophagitis; downregulation correlates with altered sphingolipid composition and epithelial barrier dysfunction
PMID: 40673394
Disease Associationsⓘ20
dementiaOpen Targets
0.28Weak
hyperpituitarismOpen Targets
0.27Weak
sensorineural hearing lossOpen Targets
0.24Weak
atrophic gastritisOpen Targets
0.13Weak
external ear diseaseOpen Targets
0.13Weak
urethral syndromeOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
colitisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
multinodular goiterOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
atopic eczemaOpen Targets
0.01Suggestive
cerebral infarctionOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
inflammatory bowel diseaseOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACER2Protein interaction97%ACER1Protein interaction97%CERS3Protein interaction96%ASAH1Protein interaction95%KDSRProtein interaction95%GALCProtein interaction95%
Tissue Expression6 tissues
Ovary
100%
Brain
98%
Liver
66%
Bone Marrow
45%
Lung
41%
Heart
3%
Gene Interaction Network
Click a node to explore
DEGS2ACER2ACER1CERS3ASAH1KDSRGALC
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6QHC5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.50–1.13]
RankingsWhere DEGS2 stands among ~20K protein-coding genes
  • #16,731of 20,598
    Most Researched11
  • #11,626of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedDEGS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Effects of Th1/Th17 and Th2 cytokines on lipid metabolism in differentiated keratinocytes.
PMID: 40046180
Front Physiol · 2025
1.00
2
Whole transcriptome sequencing indicated the Anti-tumor immunity of NLRP3 in breast cancer.
PMID: 39214479
Genomics · 2024
0.90
3
Delta 4-desaturase sphingolipid 2 enhances prostate cancer stem-like traits through phytoceramide-mediated PI3K-AKT signaling pathway.
PMID: 40380873
Carcinogenesis · 2025
0.80
4
DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.
PMID: 25871975
Transl Psychiatry · 2015
0.70
5
Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
PMID: 36907437
J Biol Chem · 2023
0.60