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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
11-Beta-hydroxylase deficiency 11-beta-hydroxylase deficiency BEFREE 29543924
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 24368200
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 18394438, 26147597
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 19144407, 20878158, 28440407
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12846892, 18414197, 20878158
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 8555497
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12396873, 14633739
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 11158024
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 16705068, 22968487
★☆☆☆☆
Found in Text Mining only
Adrenal hyperplasia, congenital, type 5 Adrenal Hyperplasia, Congenital BEFREE 3274893
★☆☆☆☆
Found in Text Mining only