CYP2A6 (cytochrome P450 family 2 subfamily A member 6)

Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1548
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 2 subfamily A member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP2A6
Synonyms (NCBI Gene) Gene synonyms aliases
CPA6, CYP2A, CYP2A3, CYPIIA6, P450C2A, P450PB
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NFYA Activation 15247629
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
122720 2610 ENSG00000255974
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma letrozole concentrations in letrozole treated hormone-receptor-positive breast cancer N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma, Lung adenocarcinoma (conditioned on cigarettes per day) N/A N/A GWAS
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease 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