Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | CYP2A6 |
Gene Name: | CYP2A6 |
Protein Full Name: | Cytochrome P450 2A6 |
Alias: | Coumarin 7-hydroxylase; CYP2A3; CYPIIA6; P450 IIA3; P450(I) |
Mass (Da): | 56517 |
Number AA: | 494 |
UniProt ID: | P11509 |
Locus ID: | 1548 |
COSMIC ID: | CYP2A6 |
Gene location on chromosome: | 19q13.2 |
Cancer protein type: | OP* |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | PROMOTES* |
Number of cancer specimens: | 19625 |
Percent of cancer specimens with mutations: | 0.63 |
Normal role description: | CYP2A6 hydroxylates coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and certain pharmaceuticals in the liver. Some polymorphisms of the gene results in poor metabolism of its substrates, meaning that those allelic variants cannot efficiently metabolize coumarin or nicotine. Individuals with these allelic variants have been shown to be less likely to be smokers and/or tended to smoke fewer cigarettes per day, hence decreasing the risk of lung cancer and other smoking-related cancers such as mouth and gastric cancers. |
Commentary on involvement of protein in cancer: | Only 2 ovarian samples were included in Sanger COSMIC. *Polymorphisms in CYP2A6 that affect enzyme activity and susceptibility to lung cancer have been identified; CYP2A6 genetic variations are associated with nicotine kinetics and smoking behavior. People with CYP2A6 genetic variations - poor metabolizers of CYP2A6, were less likely to be smokers and tended to smoke fewer cigarettes per day. Hence, although not an oncoprotein per se, loss of, or decreased, gene function leads to a decreased risk of smoking-associated cancers. |