CYP2C18
Cytochrome P450 Family 2 Subfamily C Member 18
Gene Information Card
| Symbol | CYP2C18 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily C Member 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 1562 ncbi.nlm.nih.gov/gene/1562 |
| Ensembl ID | ENSG00000138109 |
| UniProt ID | P33260 |
| OMIM ID | 601131 |
| HGNC ID | 2620 |
| Aliases | CPT1C, P450-6B/29C, CYP2C17 (formerly) |
Description
CYP2C18 encodes a member of the cytochrome P450 superfamily of enzymes, specifically the CYP2C subfamily. These monooxygenases are involved in the metabolism of various xenobiotics, including drugs and endogenous compounds such as arachidonic acid. CYP2C18 is primarily expressed in the liver and skin, and its activity can be influenced by genetic polymorphisms. The gene is located on chromosome 10q23.33 within a cluster of CYP2C genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Warfarin sensitivity | Altered metabolism due to CYP2C18 variants affecting drug clearance | ClinVar |
| Drug-induced liver injury | Polymorphic CYP2C18 may contribute to idiosyncratic toxicity | NCBI Gene |
| Phenytoin metabolism variability | Reduced enzyme activity leads to altered drug levels | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Skin | 3.8 | Low |
| Small intestine | 2.1 | Low |
| Kidney | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.0 | Hepatocellular carcinoma cell line |
| HaCaT | 3.5 | Keratinocyte cell line |
| Caco-2 | 1.8 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2860840 | SNP | 0.15 (global) | Missense; may alter substrate specificity |
| rs11187868 | SNP | 0.08 (global) | Intronic; potential splicing effect |
| c.475A>G | Missense | Rare | Reduced catalytic activity in vitro |
Mutation functional classification
Loss of Function (LOF)
c.475A>G (p.Thr159Ala) decreases enzyme activity in vitro.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for CYP2C18.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • heme binding (GO:0020037) |
| • iron ion binding (GO:0005506) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Arachidonic acid metabolism (KEGG: hsa00590)
Protein Summary
CYP2C18 is a 490-amino-acid microsomal cytochrome P450 enzyme with a heme-binding domain. It localizes to the endoplasmic reticulum and catalyzes oxidative reactions, including hydroxylation and epoxidation. The enzyme shows substrate overlap with other CYP2C members but has distinct expression in skin and liver. Structural models indicate a typical P450 fold with a conserved active site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2C18 Knockout HEK293 Cell Line | EDJ-KQ4403 | Human | 1562 | Details Get a Quote |
| CYP2C18 Knockout HeLa Cell Line | EDJ-KQ53049 | Human | 1562 | Details Get a Quote |
| CYP2C18 Knockout A-549 Cell Line | EDJ-KQ61513 | Human | 1562 | Details Get a Quote |
| CYP2C18 Knockout HCT 116 Cell Line | EDJ-KQ70006 | Human | 1562 | Details Get a Quote |
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