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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYP2C18
cytochrome P450 family 2 subfamily C member 18
Chromosome 10 · 10q23.33
NCBI Gene: 1562Ensembl: ENSG00000108242.14HGNC: HGNC:2620UniProt: P33260
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retinoic acid metabolic processretinoic acid 4-hydroxylase activityxenobiotic catabolic processcytoplasmresponse to anticoagulantAbnormal pupillary functionneurodegenerative diseaseresponse to xenobiotic stimulus
✦AI Summary

CYP2C18 is a cytochrome P450 monooxygenase involved in retinoid metabolism. The enzyme catalyzes the hydroxylation of all-trans-retinoic acid (atRA) to 4-hydroxyretinoate, modulating atRA signaling and clearance through a mechanism utilizing molecular oxygen and NADPH via cytochrome P450 reductase [UniProt]. The gene contains nine coding exons spanning approximately 55 kb with a canonical TATA box and multiple regulatory elements including glucocorticoid response sequences 1. CYP2C18 mRNA is expressed in all human liver specimens at 7-8-fold lower levels than CYP2C8 and CYP2C9, with marked interindividual variability 2. Despite high mRNA expression, CYP2C18 protein is not detected in human liver in vivo, though recombinant expression in cell lines demonstrates catalytic activity toward tolbutamide 34. The gene exhibits sexually dimorphic regulation, with male-biased expression in transgenic models primarily regulated by androgen-dependent pituitary growth hormone secretion in liver and direct androgen action in kidney 5. CYP2C18 displays distinct substrate binding properties compared to related CYP2C9 and CYP2C19 enzymes, with computational models identifying unique residues in the active site 6. A genetic polymorphism exists in the 5'-flanking region (allele frequency 21.4%), linked to CYP2C19 variants 7. Clinical significance remains limited due to poor hepatic protein expression in humans, though spliced variants with exon 5 deletion have been identified 4.

Sources cited
1
CYP2C18 has nine coding exons spanning ~55 kb with canonical TATA box and glucocorticoid regulatory elements
PMID: 8333835
2
CYP2C18 mRNA expressed in all human livers at 7-8-fold lower levels than CYP2C8/C9 with marked interindividual variation
PMID: 1896026
3
CYP2C18 protein not expressed in human liver despite high mRNA expression; transgenic mice show sexually dimorphic expression
PMID: 18276835
4
CYP2C18 expression regulated by androgens in kidney and growth hormone-dependent mechanisms in liver
PMID: 19339376
5
CYP2C18 has distinct substrate binding properties and active site residues compared to CYP2C9 and CYP2C19
PMID: 10584066
6
CYP2C18 gene polymorphism in 5'-flanking region with 21.4% mutant allele frequency, linked to CYP2C19
PMID: 8617372
7
Recombinant CYP2C18 demonstrates tolbutamide hydroxylase activity; spliced variant with exon 5 missing identified
PMID: 12378636
Disease Associationsⓘ20
response to anticoagulantOpen Targets
0.39Weak
Abnormal pupillary functionOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
poisoningOpen Targets
0.25Weak
response to clopidogrelOpen Targets
0.25Weak
response to platelet aggregation inhibitorOpen Targets
0.23Weak
uterine fibroidOpen Targets
0.11Weak
response to selective serotonin reuptake inhibitorOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
female genital tract polypOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
DNA methylationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALDH1A2Protein interaction99%UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A1Protein interaction97%UGT1A3Protein interaction97%UGT2B15Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
CYP2C18ALDH1A2UGT1A4UGT1A8UGT1A1UGT1A3UGT2B15
PROTEIN STRUCTURE
Preparing viewer…
PDB2CIK · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.65–1.16]
RankingsWhere CYP2C18 stands among ~20K protein-coding genes
  • #9,058of 20,598
    Most Researched48
  • #12,144of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedCYP2C18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene structure and upstream regulatory regions of human CYP2C9 and CYP2C18.
PMID: 8333835
Biochem Biophys Res Commun · 1993
1.00
2
Generation of mice transgenic for human CYP2C18 and CYP2C19: characterization of the sexually dimorphic gene and enzyme expression.
PMID: 18276835
Drug Metab Dispos · 2008
0.90
3
Regulation of human CYP2C18 and CYP2C19 in transgenic mice: influence of castration, testosterone, and growth hormone.
PMID: 19339376
Drug Metab Dispos · 2009
0.80
4
Homology modeling and substrate binding study of human CYP2C18 and CYP2C19 enzymes.
PMID: 10584066
Proteins · 1999
0.70
5
CYP2C18: the orphan in the CYP2C family.
PMID: 36331025
Pharmacogenomics · 2022
0.60