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.
2
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 Transcription factors information provided by TRRUST V2 database.
1
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 (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
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 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (28)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN DISEASES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHUS CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, LARGE CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SMALL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (127)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 12115524
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 12115524
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17127240, 17683511, 19479063
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 12115524
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 12115524
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 12115524
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17683511
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28073588
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 28073588 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only