CYP2A7
Cytochrome P450 Family 2 Subfamily A Member 7
Gene Information Card
| Symbol | CYP2A7 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily A Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 1549 ncbi.nlm.nih.gov/gene/1549 |
| Ensembl ID | ENSG00000198077 |
| UniProt ID | P20813 |
| OMIM ID | 608054 |
| HGNC ID | 2611 |
| Aliases | CPAD, CYP2A, CYP2A7P, P450-IIA4 |
Description
CYP2A7 (Cytochrome P450 Family 2 Subfamily A Member 7) is a protein-coding gene located on chromosome 19q13.2. It encodes a member of the cytochrome P450 superfamily of enzymes, which are involved in the oxidative metabolism of xenobiotics and endogenous compounds. CYP2A7 is closely related to CYP2A6 and CYP2A13, but its enzymatic activity is considered minimal or absent due to inactivating mutations. The gene is expressed in liver and other tissues, and polymorphisms may influence drug metabolism and disease susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nicotine Dependence | CYP2A7 variants may alter nicotine metabolism through linkage with CYP2A6 | PMID: 20031623 |
| Lung Cancer | Polymorphisms in CYP2A7 region associated with altered CYP2A6 activity and lung cancer risk | PMID: 21573179 |
| Liver Disease | CYP2A7 expression changes observed in hepatocellular carcinoma | PMID: 25652387 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 6.2 | Medium |
| Adrenal Gland | 2.1 | Low |
| Kidney | 1.5 | Low |
| Lung | 0.8 | Not detected |
| Small Intestine | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 3.4 | Hepatocellular carcinoma cell line |
| HEK293 | 0.2 | Low expression |
| A549 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs28399433 | SNP | 0.5% (global) | Missense; may affect protein stability |
| rs1137115 | SNP | 2.3% (global) | Synonymous; no known functional effect |
| rs8192726 | SNP | 0.1% (global) | Intronic; potential splicing alteration |
Mutation functional classification
Loss of Function (LOF)
CYP2A7 is naturally considered a pseudogene-like variant with minimal enzymatic activity; certain missense mutations further reduce any residual function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CYP2A7.
Dominant Negative (DN)
No dominant-negative effects have been described for CYP2A7.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • heme binding (GO:0020037) |
| • iron ion binding (GO:0005506) | • oxidoreductase activity (GO:0016491) |
| • endoplasmic reticulum membrane (GO:0005789) | • oxidation-reduction process (GO:0055114) |
Pathways
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Chemical carcinogenesis (KEGG: hsa05204)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
Protein Summary
CYP2A7 encodes a cytochrome P450 enzyme (CYP2A7) that is primarily expressed in the liver. The protein contains a heme-binding domain and is localized to the endoplasmic reticulum membrane. Despite its structural similarity to active CYP2A6, CYP2A7 exhibits negligible catalytic activity due to critical amino acid substitutions. It may serve as a reservoir for genetic variation that influences CYP2A6 function through gene conversion or regulatory effects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2A7 Knockout HEK293 Cell Line | EDJ-KQ4395 | Human | 1549 | Details Get a Quote |
| CYP2A7 Knockout HeLa Cell Line | EDJ-KQ53042 | Human | 1549 | Details Get a Quote |
| CYP2A7 Knockout A-549 Cell Line | EDJ-KQ61506 | Human | 1549 | Details Get a Quote |
| CYP2A7 Knockout HCT 116 Cell Line | EDJ-KQ70000 | Human | 1549 | Details Get a Quote |
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