CYP2A6 cytochrome P450 family 2 subfamily A member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2A6provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily A member 6provided by HGNC
Primary source: HGNC:HGNC:2610
See related: Ensembl:ENSG00000255974 MIM:122720; AllianceGenome:HGNC:2610
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: CPA6; CYP2A; CYP2A3; P450PB; CYPIIA6; P450C2A
Summary: This gene, CYP2A6, 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 hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 542.0) See more
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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 (40843541..40850447, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43664238..43671146, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41349446..41356352, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study.
Title: CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study.
Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension.
Title: Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension.
Cigarette Smoking and Intracranial Aneurysms: A Pilot Analysis of SNPs in the CYP2A6 Gene in the Italian Population.
Title: Cigarette Smoking and Intracranial Aneurysms: A Pilot Analysis of SNPs in the CYP2A6 Gene in the Italian Population.
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.
Title: Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.
Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous renal cell carcinoma: Additional support of three cases.
Title: Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous renal cell carcinoma: Additional support of three cases.
CYP2A6 gene polymorphism and severity of coronary atherosclerosis in Indonesian male smokers: A pilot study.
Title: CYP2A6 gene polymorphism and severity of coronary atherosclerosis in Indonesian male smokers: A pilot study.
Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.
Title: Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.
Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes.
Title: Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes.
Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.
Title: Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.
Cytochrome P450 2A6 is associated with macrophage polarization and is a potential biomarker for hepatocellular carcinoma.
Title: Cytochrome P450 2A6 is associated with macrophage polarization and is a potential biomarker for hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (219)

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
Lung cancer MedGen: C0242379 OMIM: 211980 GeneReviews: Not available	Compare labs
Tobacco addiction, susceptibility to MedGen: C1861063 OMIM: 188890 GeneReviews: Not available	Compare labs
Warfarin response MedGen: C0750384 OMIM: 122700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify multiple loci associated with smoking behavior. EBI GWAS Catalog EBI GWAS CatalogPubMed
Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11626 (e-PCR)
- UniSTS:33821

NoName (e-PCR)
- UniSTS:481095

DXS7515 (e-PCR)
- UniSTS:43140

RH11716 (e-PCR)
- UniSTS:5298

NoName (e-PCR)
- UniSTS:483805

D19S993 (e-PCR)
- UniSTS:74232

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables coumarin 7-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables coumarin 7-hydroxylase activity	TAS Traceable Author Statement more info
enables enzyme binding	IPI Inferred from Physical Interaction 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 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in coumarin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in coumarin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coumarin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in coumarin metabolic process	TAS Traceable Author Statement more info
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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
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 2A6

Names: 1,4-cineole 2-exo-monooxygenase; coumarin 7-hydroxylase; cytochrome P450 IIA3; cytochrome P450(I); cytochrome P450, family 2, subfamily A, polypeptide 6; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6; flavoprotein-linked monooxygenase; xenobiotic monooxygenase

NP_000753.3

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.