CYP2E1
Cytochrome P450 Family 2 Subfamily E Member 1
Gene Information Card
| Symbol | CYP2E1 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily E Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 1571 ncbi.nlm.nih.gov/gene/1571 |
| Ensembl ID | ENSG00000130649 |
| UniProt ID | P05181 |
| OMIM ID | 124040 |
| HGNC ID | 2631 |
| Aliases | CYP2E, P450-J, P450C2E |
Description
CYP2E1 encodes cytochrome P450 2E1, a member of the cytochrome P450 superfamily of enzymes. This protein is primarily expressed in the liver and metabolizes various xenobiotics, including ethanol, acetaminophen, and several carcinogens. It also plays a role in gluconeogenesis and lipid peroxidation. Genetic variants in CYP2E1 can influence susceptibility to drug-induced liver injury and alcohol-related diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acetaminophen-induced hepatotoxicity | CYP2E1 metabolizes acetaminophen to the toxic metabolite NAPQI; increased activity leads to higher risk of liver injury | ClinVar, NCBI |
| Alcoholic liver disease | CYP2E1 is induced by ethanol and contributes to oxidative stress and steatosis | OMIM, NCBI |
| Type 2 diabetes | CYP2E1 expression is elevated in obesity and may influence insulin resistance | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 30.2 | High |
| Adrenal gland | 4.8 | Medium |
| Kidney | 3.1 | Medium |
| Lung | 1.5 | Low |
| Small intestine | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| HepaRG | 28.0 | Differentiated hepatocyte-like cells |
| A549 | 0.8 | Lung adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2031920 (c.-1053C>T) | Promoter variant | 5-10% (global) | Increased transcriptional activity; associated with higher CYP2E1 expression |
| rs6413432 (c.989C>G) | Missense (Thr330Ser) | 1-3% (global) | Reduced enzyme activity; linked to altered drug metabolism |
Mutation functional classification
Loss of Function (LOF)
rs6413432 (Thr330Ser) reduces catalytic activity, leading to decreased metabolism of substrates like chlorzoxazone.
Gain of Function (GOF)
rs2031920 (promoter variant) increases transcription, resulting in higher enzyme levels and enhanced metabolism.
Dominant Negative (DN)
No dominant negative mutations reported for CYP2E1.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome P450 activity | • monooxygenase activity |
| • heme binding | • iron ion binding |
| • oxidoreductase activity | • ethanol metabolic process |
| • xenobiotic metabolic process |
Pathways
• Ethanol oxidation
• Acetaminophen metabolism
• Drug metabolism - cytochrome P450
• Chemical carcinogenesis
Protein Summary
Cytochrome P450 2E1 is a 493-amino acid microsomal hemoprotein that catalyzes the oxidation of small hydrophobic substrates, including ethanol, acetone, and acetaminophen. It is highly expressed in the liver and induced by chronic alcohol consumption. The enzyme generates reactive oxygen species and contributes to oxidative stress. Its activity is modulated by genetic polymorphisms and post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2E1 Knockout HEK293 Cell Line | EDJ-KQ958 | Human | 1571 | Details Get a Quote |
| CYP2E1 Knockout HeLa Cell Line | EDJ-KQ53050 | Human | 1571 | Details Get a Quote |
| CYP2E1 Knockout A-549 Cell Line | EDJ-KQ61515 | Human | 1571 | Details Get a Quote |
| CYP2E1 Knockout HCT 116 Cell Line | EDJ-KQ70008 | Human | 1571 | Details Get a Quote |
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