CYP2B6
Cytochrome P450 Family 2 Subfamily B Member 6
Gene Information Card
| Symbol | CYP2B6 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily B Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 1555 ncbi.nlm.nih.gov/gene/1555 |
| Ensembl ID | ENSG00000197408 |
| UniProt ID | P20813 |
| OMIM ID | 123930 |
| HGNC ID | 2615 |
| Aliases | CPB6, CYP2B, CYPIIB6 |
Description
CYP2B6 is a member of the cytochrome P450 superfamily of enzymes, which are involved in the metabolism of xenobiotics and endogenous compounds. This gene encodes a protein that is primarily expressed in the liver and is responsible for the metabolism of several clinically important drugs, including bupropion, efavirenz, cyclophosphamide, and methadone. Genetic polymorphisms in CYP2B6 can significantly affect drug efficacy and toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Efavirenz-induced neurotoxicity | Reduced CYP2B6 activity due to loss-of-function variants leads to elevated efavirenz plasma concentrations and increased risk of central nervous system side effects. | ClinVar, PubMed |
| Bupropion response variability | Polymorphisms in CYP2B6 alter bupropion hydroxylation, affecting therapeutic response and side effect profile. | ClinVar, PubMed |
| Cyclophosphamide toxicity | CYP2B6 variants influence the activation of cyclophosphamide to its active metabolite, impacting both efficacy and toxicity. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 2.1 | Medium |
| Kidney | 0.8 | Low |
| Lung | 0.3 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.9 | Hepatocellular carcinoma cell line |
| HepaRG | 11.2 | Differentiated hepatocyte-like cells |
| Caco-2 | 1.5 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.516G>T (rs3745274) | Missense | ~15-30% (global) | Reduced enzyme activity; associated with increased efavirenz exposure. |
| c.785A>G (rs2279343) | Missense | ~10-20% (global) | Altered catalytic activity; linked to bupropion metabolism changes. |
| c.983T>C (rs28399499) | Missense | ~2-5% (African) | Severe loss of function; increased risk of efavirenz neurotoxicity. |
Mutation functional classification
Loss of Function (LOF)
c.983T>C (rs28399499) results in a severely reduced or absent enzyme activity, leading to impaired drug metabolism.
Gain of Function (GOF)
No well-characterized gain-of-function variants are currently reported for CYP2B6.
Dominant Negative (DN)
No dominant-negative effects have been described for CYP2B6 variants.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Chemical carcinogenesis (KEGG: hsa05204)
Protein Summary
CYP2B6 is a 491-amino acid microsomal hemoprotein that functions as a monooxygenase. It catalyzes the oxidative metabolism of various drugs and xenobiotics, including bupropion, efavirenz, and cyclophosphamide. The protein is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane domain and contains a conserved heme-binding region essential for catalytic activity. Genetic polymorphisms significantly influence interindividual variability in drug response and toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2B6 Knockout HEK293 Cell Line | EDJ-KQ4397 | Human | 1555 | Details Get a Quote |
| CYP2B6 Knockout HeLa Cell Line | EDJ-KQ53045 | Human | 1555 | Details Get a Quote |
| CYP2B6 Knockout A-549 Cell Line | EDJ-KQ61509 | Human | 1555 | Details Get a Quote |
| CYP2B6 Knockout HCT 116 Cell Line | EDJ-KQ70003 | Human | 1555 | Details Get a Quote |
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