Cytochrome P450, Subfamily IIB, Polypeptide 6

Alternative Names

  • cYP2B6
  • Cytochrome P450, Phenobarbitol-Inducible

Associated Diseases

Breast Cancer
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OMIM Number

123930

NCBI Gene ID

1555

Uniprot ID

P20813

Length

27,170 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Cytochrome P450 2B6

Molecular Mass

56278 Da

Amino Acid Count

491

Genomic Location

chr19:40,991,229-41,018,398

Gene Map Locus
19q13.2

Description

This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000767.5:c.1459C>ALebanonchr19:41016810Drug ResponseBreast CancerNG_007929.1:g.30512C>A; NM_000767.5:c.1459C>A; NP_000758.1:p.Arg487Ser3211371
NM_000767.5:c.516G>TLebanon; United Arab E...NC_000019.10:g.41006936G>TDrug ResponseDrug ResponseBreast CancerNG_007929.1:g.20638G>T; NM_000767.5:c.516G>T; NP_000758.1:p.Gln172His374527429671
NM_000767.5:c.785A>GLebanonchr19:41009358Drug ResponseDrug ResponseBreast CancerNG_007929.1:g.23060A>G; NM_000767.5:c.785A>G; NP_000758.1:p.Lys262Arg2279343120171
NM_000767.5:c.983T>CUnited Arab EmiratesNC_000019.10:g.41012316T>CDrug ResponseNG_007929.1:g.26018T>C; NM_000767.5:c.983T>C; NP_000758.1:p.Ile328Thr28399499225985
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