• Gene id: 1565

Gene Summary

• Gene Symbol: CYP2D6   Gene   UCSC   Ensembl
• Aliases: CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, CYPIID6, P450-DB1, P450C2D, P450DB1
• Gene name: cytochrome P450 family 2 subfamily D member 6
• Alternate names: cytochrome P450 2D6, cholesterol 25-hydroxylase, cytochrome P450, family 2, subfamily D, polypeptide 6, cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2, cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2, cytochrome P450, sub,
• Gene location: 22q13.2 (42130809: 42126498)     Exons: 9     NC_000022.11
• Gene summary(Entrez): This gene 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 protein local
• OMIM: 617344

Protein Summary

• Protein general information: P10635  
  • Name: Cytochrome P450 2D6 (EC 1.14.14. ) (CYPIID6) (Cholesterol 25 hydroxylase) (Cytochrome P450 DB1) (Debrisoquine 4 hydroxylase)
  • Length: 497  
  • Mass: 55769
• Sequence:

  MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQLRRRFGDVFSLQLAW
  TPVVVLNGLAAVREALVTHGEDTADRPPVPITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLE
  QWVTEEAACLCAAFANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDPRFLRLLDLAQEGLKEESGFLREVLN
  AVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLRIVVA
  DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVT
  HMTSRDIEVQGFRIPKGTTLITNLSSVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLAR
  MELFLFFTSLLQHFSFSVPTGQPRPSHHGVFAFLVSPSPYELCAVPR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008069  IPR036396  
  • Prosite: PS00086
  • PDB: 2F9Q 3QM4 3TBG 3TDA 4WNT 4WNU 4WNV 4WNW 4XRY 4XRZ 5TFT 5TFU 6CSB 6CSD
  • PDBsum: 2F9Q 3QM4 3TBG 3TDA 4WNT 4WNU 4WNV 4WNW 4XRY 4XRZ 5TFT 5TFU 6CSB 6CSD
  • STRING: ENSP00000353820
• Other Databases: GeneCards:  CYP2D6  Malacards:  CYP2D6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006082	organic acid metabolic process	IBA	biological process
GO:0006805	xenobiotic metabolic process	IBA	biological process
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	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0019369	arachidonic acid metabolic process	IBA	biological process
GO:0042738	exogenous drug catabolic process	IBA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0042572	retinol metabolic process	IDA	biological process
GO:0062189	anandamide 14,15 epoxidase activity	IDA	molecular function
GO:0062188	anandamide 11,12 epoxidase activity	IDA	molecular function
GO:0062187	anandamide 8,9 epoxidase activity	IDA	molecular function
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0005506	iron ion binding	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:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0042759	long-chain fatty acid biosynthetic process	TAS	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0009820	alkaloid metabolic process	IDA	biological process
GO:0009822	alkaloid catabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0033076	isoquinoline alkaloid metabolic process	IDA	biological process
GO:0046483	heterocycle metabolic process	IDA	biological process
GO:0046483	heterocycle metabolic process	IDA	biological process
GO:0051100	negative regulation of binding	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0017144	drug metabolic process	IMP	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0009804	coumarin metabolic process	IDA	biological process
GO:0016098	monoterpenoid metabolic process	IDA	biological process
GO:0042737	drug catabolic process	IDA	biological process
GO:0070989	oxidative demethylation	IDA	biological process
GO:0070989	oxidative demethylation	IDA	biological process
GO:0090350	negative regulation of cellular organofluorine metabolic process	IDA	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04726	Serotonergic synapse
hsa01522	Endocrine resistance
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450

Diseases

Associated diseases	References
Poor drug metabolism	KEGG:H01171
Asthma	PMID:19575027
acute myeloid leukemia	PMID:11037802
acute myeloid leukemia	PMID:21518482
acute lymphocytic leukemia	PMID:11037802
acute lymphocytic leukemia	PMID:19593802
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq