CYP2A6 (cytochrome P450 family 2 subfamily A member 6)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1548
Gene name Cytochrome P450 family 2 subfamily A member 6
Gene symbol CYP2A6
Synonyms (NCBI Gene)
CPA6CYP2ACYP2A3CYPIIA6P450C2AP450PB
Chromosome 19
Chromosome location 19q13.2
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 prot
SNPs SNP information provided by dbSNP.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs1801272 A>T Drug-response Coding sequence variant, missense variant
rs28399447 A>G Drug-response Coding sequence variant, missense variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NFYA Activation 15247629
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
122720 2610 ENSG00000255974
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11509
Protein name Cytochrome P450 2A6 (EC 1.14.14.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIA6) (Coumarin 7-hydroxylase) (Cytochrome P450 IIA3) (Cytochrome P450(I))
Protein function Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1
PDB 1Z10 , 1Z11 , 2FDU , 2FDV , 2FDW , 2FDY , 3EBS , 3T3Q , 3T3R , 4EJJ , 4RUI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 34 → 491 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:1889415, ECO:0000269|PubMed:1944238}.
Sequence
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Caffeine metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Chemical carcinogenesis - DNA adducts
Lipid and atherosclerosis 		  Xenobiotics
CYP2E1 reactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NICOTINE, POOR METABOLISM OF drug response rs1801272 RCV000018483
Tegafur response not provided rs28399447 RCV000018488
Warfarin response drug response rs1801272 RCV000018482
Show/Hide Text Mining Associations (53)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 17683511
Adenocarcinoma Associate 36289279
Adenocarcinoma of Lung Associate 36289279
Adrenocortical Carcinoma Associate 28073588
Arteriosclerosis Obliterans Associate 23049750
Attention Deficit Disorder with Hyperactivity Associate 21778150
Breast Neoplasms Associate 15084249, 21975350, 28971320
Carcinogenesis Associate 17683511, 29436633, 36289279
Carcinoma Hepatocellular Associate 26414287, 29436633, 30148168, 32350062, 34255396, 39193514
Cardiovascular Diseases Associate 29847509