• Gene id: 1555

Gene Summary

• Gene Symbol: CYP2B6   Gene   UCSC   Ensembl
• Aliases: CPB6, CYP2B, CYP2B7, CYP2B7P, CYPIIB6, EFVM, IIB1, P450
• Gene name: cytochrome P450 family 2 subfamily B member 6
• Alternate names: cytochrome P450 2B6, 1,4-cineole 2-exo-monooxygenase, cytochrome P450 IIB1, cytochrome P450, family 2, subfamily B, polypeptide 6, cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6,
• Gene location: 19q13.2 (40991298: 41018395)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 123930

SNPs

rs1042389

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41018248T>C
NC_000019.9   g.41524153T>C
NG_007929.1   g.31950T>C
NM_000767.5   c.*1421T>C
NM_000767.4   c.*1421T>C|SEQ=[T/C]|GENE=CYP2B6

Protein Summary

• Protein general information: P20813  
  • Name: Cytochrome P450 2B6 (EC 1.14.13. ) (1,4 cineole 2 exo monooxygenase) (CYPIIB6) (Cytochrome P450 IIB1)
  • Length: 491  
  • Mass: 56,278
• Sequence:

  MELSVLLFLALLTGLLLLLVQRHPNTHDRLPPGPRPLPLLGNLLQMDRRGLLKSFLRFREKYGDVFTVHLGPRPV
  VMLCGVEAIREALVDKAEAFSGRGKIAMVDPFFRGYGVIFANGNRWKVLRRFSVTTMRDFGMGKRSVEERIQEEA
  QCLIEELRKSKGALMDPTFLFQSITANIICSIVFGKRFHYQDQEFLKMLNLFYQTFSLISSVFGQLFELFSGFLK
  YFPGAHRQVYKNLQEINAYIGHSVEKHRETLDPSAPKDLIDTYLLHMEKEKSNAHSEFSHQNLNLNTLSLFFAGT
  ETTSTTLRYGFLLMLKYPHVAERVYREIEQVIGPHRPPELHDRAKMPYTEAVIYEIQRFSDLLPMGVPHIVTQHT
  SFRGYIIPKDTEVFLILSTALHDPHYFEKPDAFNPDHFLDANGALKKTEAFIPFSLGKRICLGEGIARAELFLFF
  TTILQNFSMASPVAPEDIDLTPQECGVGKIPPTYQIRFLPR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008068  IPR036396  
  • Prosite: PS00086
  • PDB: 3IBD 3QOA 3QU8 3UA5 4I91 4RQL 4RRT 4ZV8 5UAP 5UDA 5UEC 5UFG
  • PDBsum: 3IBD 3QOA 3QU8 3UA5 4I91 4RQL 4RRT 4ZV8 5UAP 5UDA 5UEC 5UFG
  • STRING: ENSP00000324648
• Other Databases: GeneCards:  CYP2B6  Malacards:  CYP2B6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008392	arachidonic acid epoxygenase activity	IBA	molecular function
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0017144	drug metabolic process	IMP	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	IBA	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0042180	cellular ketone metabolic process	IDA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008392	arachidonic acid epoxygenase activity	IBA	molecular function
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0017144	drug metabolic process	IMP	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	IBA	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0042180	cellular ketone metabolic process	IDA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008392	arachidonic acid epoxygenase activity	IBA	molecular function
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0017144	drug metabolic process	IMP	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	IBA	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0042180	cellular ketone metabolic process	IDA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Cancer	GAD: 12242601
Cancer (lung)	GAD: 20418888
Cancer (prostate)	GAD: 19425200
Cancer (Hematologic)	GAD: 21108329
Cancer (leukemia)	GAD: 19074885
Cancer (breast)	GAD: 18496131
Cardiovascular disease	GAD: 19106084
Cardiovascular disease	GAD: 19106084
Obesity	GAD: 20734064
Hypercholesterolemia	GAD: 20602615
Epilepsy	GAD: 20089352
Chronic renal failure	GAD: 21085059
Premature ovarian failure (POF)	GAD: 15248218
Pelvic endometriosis	INFBASE: 12372463
Endometriosis	INFBASE: 10593388
Female infertility	INFBASE: 19342032
Polycystic ovary syndrome (PCOS)	INFBASE: 16798289
Male factor infertility	MIK: 24488272
Male factor infertility	MIK: 24488272
Endometriosis	INFBASE: 19137777
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 24488272

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24488272	Idiopathic male infertility	rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2		1001 (600 idiopathic infertile male patients, 401 controls)	Male infertility	CYP2B6 CYP1A1  NAT2
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq