CYP2A13
Cytochrome P450 Family 2 Subfamily A Member 13
Gene Information Card
| Symbol | CYP2A13 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily A Member 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 1553 ncbi.nlm.nih.gov/gene/1553 |
| Ensembl ID | ENSG00000197818 |
| UniProt ID | Q16696 |
| OMIM ID | 608054 |
| HGNC ID | 2617 |
| Aliases | CYP2A, CYP2A13, CPAD |
Description
CYP2A13 is a member of the cytochrome P450 superfamily of enzymes involved in the metabolism of xenobiotics, including nicotine and tobacco-specific nitrosamines. It is primarily expressed in the respiratory tract and plays a key role in the bioactivation of procarcinogens such as 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). Genetic polymorphisms in CYP2A13 have been associated with altered enzyme activity and susceptibility to lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Bioactivation of tobacco-specific nitrosamines (e.g., NNK) leading to DNA adducts and carcinogenesis | PMID: 15187026 |
| Nicotine Dependence | Metabolism of nicotine to cotinine; altered clearance affects smoking behavior | PMID: 16951198 |
| Respiratory Tract Toxicity | Metabolic activation of environmental procarcinogens in airway epithelium | PMID: 12435629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.0 | Not detected |
| Nasal epithelium | 0.0 | Not detected |
| Trachea | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 0.0 | Not detected |
| BEAS-2B | 0.0 | Not detected |
| HepG2 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs8192789 (Arg257Cys) | missense | 0.5% in East Asians | Reduced enzyme activity |
| rs72552267 (Asp158Glu) | missense | 0.1% in Europeans | Altered substrate specificity |
| rs72552268 (Val257Met) | missense | 0.2% in Africans | Decreased NNK activation |
Mutation functional classification
Loss of Function (LOF)
rs8192789 (Arg257Cys) reduces catalytic activity toward NNK and nicotine.
Gain of Function (GOF)
No well-characterized gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • heme binding |
| • iron ion binding | • monooxygenase activity |
| • xenobiotic metabolic process |
Pathways
• Nicotine metabolism
• Chemical carcinogenesis
• Metabolism of xenobiotics by cytochrome P450
Protein Summary
CYP2A13 is a 494-amino-acid microsomal cytochrome P450 monooxygenase that localizes to the endoplasmic reticulum. It catalyzes the oxidation of nicotine and the bioactivation of tobacco-specific nitrosamines, particularly NNK. The enzyme is expressed predominantly in the respiratory tract, with highest levels in nasal mucosa and lung. Structural studies indicate a substrate-binding pocket that accommodates planar aromatic compounds. Polymorphic variants can significantly alter metabolic capacity and cancer risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2A13 Knockout HEK293 Cell Line | EDJ-KQ4396 | Human | 1553 | Details Get a Quote |
| CYP2A13 Knockout HeLa Cell Line | EDJ-KQ53044 | Human | 1553 | Details Get a Quote |
| CYP2A13 Knockout A-549 Cell Line | EDJ-KQ61508 | Human | 1553 | Details Get a Quote |
| CYP2A13 Knockout HCT 116 Cell Line | EDJ-KQ70002 | Human | 1553 | Details Get a Quote |
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