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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYP2S1
cytochrome P450 family 2 subfamily S member 1
Chromosome 19 · 19q13.2
NCBI Gene: 29785Ensembl: ENSG00000167600.15HGNC: HGNC:15654UniProt: Q96SQ9
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retinoic acid metabolic processendoplasmic reticulumthromboxane-A synthase activityhydro-lyase activityneurodegenerative diseasechronic rhinosinusitis with nasal polypsNasal Cavity PolypNasal polyposis
✦AI Summary

CYP2S1 is a cytochrome P450 monooxygenase predominantly expressed in epithelial tissues of portal-of-entry organs including the respiratory tract, gastrointestinal tract, and skin 1. The enzyme catalyzes oxidative metabolism of retinoids, particularly all-trans-retinoic acid in the epidermis, utilizing molecular oxygen and electrons from NADPH via cytochrome P450 reductase 2. Beyond monooxygenase activity, CYP2S1 displays peroxidase and isomerase activities toward eicosanoids, efficiently metabolizing prostaglandins and hydroperoxyeicosatetraenoates to products including 12-hydroxy heptadecatrienoic acid, malondialdehyde, and thromboxane A2 3. This peroxide metabolism occurs independently of NADPH and cytochrome P450 reductase, suggesting a distinct catalytic mechanism. CYP2S1 expression is induced by dioxin through the aryl hydrocarbon receptor pathway 1. The enzyme metabolizes xenobiotics including naphthalene and carcinogens, potentially contributing to tissue-specific toxicity 4. Recent evidence indicates CYP2S1 regulates the intestinal metabolome and microbiome, with altered expression associated with inflammatory bowel disease 5. Abnormal CYP2S1 gene methylation has been documented in high-altitude pulmonary edema patients 6, suggesting epigenetic involvement in disease pathogenesis.

Sources cited
1
CYP2S1 metabolizes all-trans-retinoic acid using NADPH-dependent monooxygenase mechanism
PMID: 12711469
2
CYP2S1 metabolizes prostaglandins and hydroperoxyeicosatetraenoates to produce HHT, MDA, and TXA2
PMID: 21068195
3
CYP2S1 is expressed in epithelial tissues of respiratory, gastrointestinal, and urinary tracts; induced by dioxin via AHR pathway
PMID: 16054184
4
CYP2S1 metabolizes naphthalene and may activate carcinogens contributing to extrahepatic toxicity
PMID: 15987645
5
CYP2S1 regulates intestinal metabolome and microbiome; expression reduced in inflammatory bowel disease
PMID: 41120053
6
CYP2S1 gene methylation is abnormally altered in high-altitude pulmonary edema patients
PMID: 35623478
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
chronic rhinosinusitis with nasal polypsOpen Targets
0.32Weak
Nasal Cavity PolypOpen Targets
0.28Weak
Nasal polyposisOpen Targets
0.25Weak
osteoarthritisOpen Targets
0.18Weak
dementiaOpen Targets
0.15Weak
sialolithiasisOpen Targets
0.12Weak
thyroid cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
papillary thyroid carcinomaOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
tuberculosisOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A1Protein interaction97%UGT1A7Protein interaction97%UGT1A10Protein interaction97%UGT1A9Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
98%
Liver
19%
Heart
10%
Brain
9%
Ovary
6%
Gene Interaction Network
Click a node to explore
CYP2S1UGT1A4UGT1A8UGT1A1UGT1A7UGT1A10UGT1A9
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96SQ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.56–0.99]
RankingsWhere CYP2S1 stands among ~20K protein-coding genes
  • #8,542of 20,598
    Most Researched52
  • #9,556of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedCYP2S1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Review on the Expression and Metabolic Features of Orphan Human Cytochrome P450 2S1 (CYP2S1).
PMID: 29804525
Curr Drug Metab · 2018
1.00
2
CYP2S1: a short review.
PMID: 16054184
Toxicol Appl Pharmacol · 2005
0.90
3
Human CYP2S1 metabolizes cyclooxygenase- and lipoxygenase-derived eicosanoids.
PMID: 21068195
Drug Metab Dispos · 2011
0.80
4
Identification and tissue distribution of the novel human cytochrome P450 2S1 (CYP2S1).
PMID: 11181079
Biochem Biophys Res Commun · 2001
0.70
5
Characterization and expression of extrahepatic CYP2S1.
PMID: 19368491
Expert Opin Drug Metab Toxicol · 2009
0.60