Gene Gene information from NCBI Gene database.
Entrez ID 1555
Gene name Cytochrome P450 family 2 subfamily B member 6
Gene symbol CYP2B6
Synonyms (NCBI Gene)
CPB6CYP2BCYP2B7CYP2B7PCYPIIB6EFVMIIB1P450
Chromosome 19
Chromosome location 19q13.2
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 prot
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs2279343 A>G Drug-response, benign Coding sequence variant, missense variant
rs2279345 T>A,C,G Drug-response Intron variant
rs3745274 G>A,T Drug-response Synonymous variant, coding sequence variant, missense variant
rs4803419 C>T Drug-response Intron variant
rs28399499 T>C Drug-response Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
412
miRTarBase ID miRNA Experiments Reference
MIRT051706 hsa-let-7e-5p CLASH 23622248
MIRT647556 hsa-miR-6800-3p HITS-CLIP 23824327
MIRT647555 hsa-miR-1470 HITS-CLIP 23824327
MIRT647554 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT647553 hsa-miR-660-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
AHR Unknown 19928584
ATF5 Activation 18332083
EGR1 Activation 18303024
HNF4A Unknown 18666237
NR1I2 Unknown 18096673;19928584
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IDA 19651758
GO:0004497 Function Monooxygenase activity IEA
GO:0004497 Function Monooxygenase activity TAS
GO:0005506 Function Iron ion binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123930 2615 ENSG00000197408
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20813
Protein name Cytochrome P450 2B6 (EC 1.14.13.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIB6) (Cytochrome P450 IIB1)
Protein function A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroids (PubMed:12865317, PubMed:21289075). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a wat
PDB 3IBD , 3QOA , 3QU8 , 3UA5 , 4I91 , 4RQL , 4RRT , 4ZV8 , 5UAP , 5UDA , 5UEC , 5UFG , 5WBG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 31 488 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, lung and heart right ventricle. {ECO:0000269|PubMed:10768437}.
Sequence
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arachidonic acid metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Metabolic pathways
Chemical carcinogenesis - receptor activation
Lipid and atherosclerosis
  Fatty acids
Xenobiotics
CYP2E1 reactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CYP2B6-related disorder Benign; drug response; Likely benign rs2279343, rs28399499, rs12721655, rs34477445, rs376359134, rs368531402, rs189970623, rs34883432, rs35349987, rs200334437, rs45482602, rs150742423, rs146956370, rs143488417, rs3745274 RCV003974998
RCV003927895
RCV003911401
RCV003933978
RCV003919553
RCV003951611
RCV003951853
RCV003932303
RCV003951365
RCV003959166
RCV003926884
RCV003956855
RCV003963842
RCV003961986
RCV003974851
Efavirenz response Benign; drug response rs2279343, rs186335453, rs139801276, rs373489637, rs371424910, rs281864907, rs34097093, rs36079186, rs3745274 RCV000106294
RCV000106295
RCV000106296
RCV000106297
RCV000106298
RCV000133445
RCV000133446
RCV000133447
RCV000022520
efavirenz response - Metabolism/PK drug response rs3745274 RCV001787330
efavirenz response - Toxicity drug response rs3745274 RCV001787331
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 20662624, 23080225
Adrenocortical Carcinoma Associate 28073588
Alcoholism Associate 35404482
Alzheimer Disease Associate 27056331
Breast Neoplasms Associate 15084249, 20079471, 20179710, 23824676, 25526449, 26602960, 27858847, 28178648
Carcinogenesis Associate 23591849
Carcinoma Basal Cell Associate 16582078
Carcinoma Hepatocellular Associate 19041150, 25024626, 31570105
Cardiovascular Diseases Associate 21505298, 29847509
Central Nervous System Diseases Associate 20639527, 28145050, 28492729, 29855606, 31006110, 35512066