CYP2B6 cytochrome P450 family 2 subfamily B member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2B6provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily B member 6provided by HGNC
Primary source: HGNC:HGNC:2615
See related: Ensembl:ENSG00000197408 MIM:123930; AllianceGenome:HGNC:2615
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPB6; EFVM; IIB1; P450; CYP2B; CYP2B7; CYP2B7P; CYPIIB6
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 124.8) See more
Orthologs: all
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Genomic context

Location:: 19q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40991282..41018398)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43812191..43839297)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41497187..41524303)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals.
Title: Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals.
Prenatal efavirenz exposure is independently associated with maternal, but not fetal CYP2B6 genotype.
Title: Prenatal efavirenz exposure is independently associated with maternal, but not fetal CYP2B6 genotype.
The role of polymorphic cytochrome P450 gene (CYP2B6) in B-chronic lymphocytic leukemia (B-CLL) incidence and outcome among Egyptian patients.
Title: The role of polymorphic cytochrome P450 gene (CYP2B6) in B-chronic lymphocytic leukemia (B-CLL) incidence and outcome among Egyptian patients.
Genetic polymorphisms in CYP2B6 may be associated with lung cancer risk in the Chinese Han population.
Title: Genetic polymorphisms in CYP2B6 may be associated with lung cancer risk in the Chinese Han population.
Cytochrome P450 2B6 and UDP-Glucuronosyltransferase Enzyme-Mediated Clearance of Ciprofol (HSK3486) in Humans: The Role of Hepatic and Extrahepatic Metabolism.
Title: Cytochrome P450 2B6 and UDP-Glucuronosyltransferase Enzyme-Mediated Clearance of Ciprofol (HSK3486) in Humans: The Role of Hepatic and Extrahepatic Metabolism.
Genetic polymorphisms of CYP2B6 is a risk of metabolic associated fatty liver disease in Chinese population.
Title: Genetic polymorphisms of CYP2B6 is a risk of metabolic associated fatty liver disease in Chinese population.
Expression of CYP2B6 Enzyme in Human Liver Tissue of HIV and HCV Patients.
Title: Expression of CYP2B6 Enzyme in Human Liver Tissue of HIV and HCV Patients.
Physiologically Based Pharmacokinetic Modeling to Determine the Impact of CYP2B6 Genotype on Efavirenz Exposure in Children, Mothers and Breastfeeding Infants.
Title: Physiologically Based Pharmacokinetic Modeling to Determine the Impact of CYP2B6 Genotype on Efavirenz Exposure in Children, Mothers and Breastfeeding Infants.
Multidisciplinary Insights into the Structure-Function Relationship of the CYP2B6 Active Site.
Title: Multidisciplinary Insights into the Structure-Function Relationship of the CYP2B6 Active Site.
Allelic and Genotype Frequencies of CYP2B6[ *]2 (64C > T) and CYP2B6[ *]3 (777C > A) in Three Dominant Ethnicities of the Iranian Population.
Title: Allelic and Genotype Frequencies of CYP2B6(∗)2 (64C > T) and CYP2B6(∗)3 (777C > A) in Three Dominant Ethnicities of the Iranian Population.

Submit: New GeneRIF Correction See all GeneRIFs (259)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Efavirenz response MedGen: C3281153 OMIM: 614546 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of cytochrome p450 family proteins CYP2E1, CYP2D6, and CYP2B6 in astrocytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D19S815 (e-PCR)
- UniSTS:153880

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

G35510 (e-PCR)
- UniSTS:44150

D11S3159 (e-PCR)
- UniSTS:152247

GDB:335751 (e-PCR)
- UniSTS:156601

RH80275 (e-PCR)
- UniSTS:91328

NoName (e-PCR)
- UniSTS:480455

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables anandamide 11,12 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables anandamide 14,15 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables anandamide 8,9 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables arachidonate epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables estrogen 2-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	TAS Traceable Author Statement more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA Inferred from Biological aspect of Ancestor more info
enables testosterone 16-alpha-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables testosterone 16-beta-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular ketone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome P450 2B6

Names: 1,4-cineole 2-exo-monooxygenase; cytochrome P450 IIB1; cytochrome P450, family 2, subfamily B, polypeptide 6; cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6

NP_000758.1

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.