Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1565
Gene name	Cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
Gene symbol	CYP2D6
Synonyms (NCBI Gene)	CPD6CYP2DCYP2D7APCYP2D7BPCYP2D7P2CYP2D8P2CYP2DL1CYPIID6P450-DB1P450C2DP450DB1
Chromosome	22
Chromosome location	22q13.2
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs16947	G>A,T	Likely-benign, benign, drug-response	Coding sequence variant, missense variant
rs1058172	C>G,T	Drug-response	Coding sequence variant, missense variant
rs1135832	C>A,G,T	Drug-response	Coding sequence variant, synonymous variant
rs1135838	A>G	Drug-response	Coding sequence variant, missense variant
rs1135840	C>G	Likely-benign, benign, other, drug-response	Coding sequence variant, missense variant
rs2004511	T>A,C,G	Drug-response	Intron variant
rs28371725	C>T	Likely-benign, other, drug-response	Intron variant
rs28371729	G>A,T	Drug-response	Intron variant
rs28371737	G>A	Drug-response	Downstream transcript variant
rs28371738	G>A,C	Drug-response	Downstream transcript variant
rs61737946	C>T	Drug-response	Coding sequence variant, missense variant
rs78762568	C>G,T	Drug-response	Coding sequence variant, missense variant
rs267608319	C>T	Drug-response	Coding sequence variant, missense variant
rs372708040	A>G	Drug-response	Synonymous variant, coding sequence variant
rs730882170	CACATCCGGATGTAGGATC>-	Drug-response	Frameshift variant, coding sequence variant
rs730882251	G>A	Drug-response	Coding sequence variant, missense variant
rs759070183	C>T	Drug-response	Synonymous variant, coding sequence variant
rs768552222	C>G	Drug-response	Intron variant
rs770112850	A>G	Drug-response	Intron variant
rs771263462	G>A	Drug-response	Synonymous variant, coding sequence variant
rs773065145	C>T	Drug-response	Intron variant
rs959768306	A>G	Drug-response	Intron variant
rs1252450087	T>A,C	Drug-response	Downstream transcript variant
rs1252997755	C>T	Drug-response	Intron variant
rs1261231971	A>G	Drug-response	Intron variant
rs1471668315	A>C,G	Drug-response	Intron variant
rs1569019727	G>A	Drug-response	Coding sequence variant, stop gained
rs1569020753	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1602563541	C>T	Drug-response	Downstream transcript variant
rs1602563653	T>C	Drug-response	Downstream transcript variant
rs1602563686	A>G	Drug-response	Downstream transcript variant
rs1602563722	T>A	Drug-response	Downstream transcript variant
rs1602563763	T>C	Drug-response	Downstream transcript variant
rs1602563935	A>G	Drug-response	Downstream transcript variant
rs1602564163	A>T	Drug-response	Downstream transcript variant
rs1602564412	A>G	Drug-response	3 prime UTR variant
rs1602564450	T>C	Drug-response	3 prime UTR variant
rs1602565522	C>T	Drug-response	Splice acceptor variant
rs1602565749	T>C	Drug-response	Intron variant
rs1602565818	A>G	Drug-response	Intron variant
rs1602566009	A>T	Drug-response	Missense variant, coding sequence variant
rs1602566050	T>C	Drug-response	Missense variant, coding sequence variant
rs1602566282	G>A	Drug-response	Missense variant, coding sequence variant
rs1602566813	G>A	Drug-response	Intron variant
rs1602567334	C>T	Drug-response	Intron variant
rs1602567530	T>C	Drug-response	Intron variant
rs1602568040	C>T	Drug-response	Intron variant
rs1602568220	T>C	Drug-response	Intron variant
rs1602568885	T>C	Drug-response	Missense variant, coding sequence variant
rs1602570163	T>C	Drug-response	Intron variant
rs1602570291	T>G	Drug-response	Intron variant
rs1602570404	T>C	Drug-response	Intron variant
rs1602570688	A>G	Drug-response	Missense variant, coding sequence variant
rs1602570721	G>A	Drug-response	Synonymous variant, coding sequence variant
rs1602571142	C>T	Drug-response	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029578	hsa-miR-26b-5p	Microarray	19088304

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Transcription factor	Regulation	Reference
HNF4A	Activation	11752221
HNF4G	Activation	11752221

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	15327587, 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
GO:0005739	Component	Mitochondrion	IDA	19438707
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	19438707
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	IDA	19219744
GO:0006805	Process	Xenobiotic metabolic process	IMP	18356043
GO:0006805	Process	Xenobiotic metabolic process	TAS	19438707
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	12865317
GO:0009804	Process	Coumarin metabolic process	IDA	19438707
GO:0009820	Process	Alkaloid metabolic process	IDA	19651758
GO:0009822	Process	Alkaloid catabolic process	IDA	15039299
GO:0016020	Component	Membrane	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	15039299, 16401082, 19219744
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	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
GO:0016712	Function	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
GO:0016712	Function	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	TAS
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	16352597
GO:0020037	Function	Heme binding	IEA
GO:0033076	Process	Isoquinoline alkaloid metabolic process	IDA	19448135
GO:0042178	Process	Xenobiotic catabolic process	IDA	15039299
GO:0042572	Process	Retinol metabolic process	IDA	10681376
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0062187	Function	Anandamide 8,9 epoxidase activity	IDA	21289075
GO:0062187	Function	Anandamide 8,9 epoxidase activity	IEA
GO:0062188	Function	Anandamide 11,12 epoxidase activity	IDA	21289075
GO:0062188	Function	Anandamide 11,12 epoxidase activity	IEA
GO:0062189	Function	Anandamide 14,15 epoxidase activity	IDA	21289075
GO:0062189	Function	Anandamide 14,15 epoxidase activity	IEA
GO:0070989	Process	Oxidative demethylation	IDA	15039299, 19438707
GO:0090350	Process	Negative regulation of organofluorine metabolic process	IDA	19448135

MIM	HGNC	e!Ensembl
124030	2625	ENSG00000100197

P10635

Protein name

Cytochrome P450 2D6 (EC 1.14.14.-) (CYPIID6) (Cholesterol 25-hydroxylase) (Cytochrome P450-DB1) (Debrisoquine 4-hydroxylase)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen

PDB

2F9Q , 3QM4 , 3TBG , 3TDA , 4WNT , 4WNU , 4WNV , 4WNW , 4XRY , 4XRZ , 5TFT , 5TFU , 6CSB , 6CSD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	34 → 494	Cytochrome P450	Domain

Sequence

MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQ
LRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTADRPPVPITQILGFGPRSQGVF
LARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDK
AVSNVIASLTCGRRFEYDDPRFLRLLDLAQEGLKEESGFLREVLNAVPVLLHIPALAGKV
LRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLRIVVA
DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVI
HEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLSSVLKDEAVWEKPFRFHPEHF
LDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGV
FAFLVSPSPYELCAVPR

Sequence length

497

Interactions

View interactions

	KEGG		Reactome
	Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 Endocrine resistance Serotonergic synapse		Fatty acids Miscellaneous substrates Xenobiotics CYP2E1 reactions Biosynthesis of maresin-like SPMs

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 (50)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	drug response; Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Debrisoquine, poor metabolism of	drug response; Likely benign; other; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deutetrabenazine response	drug response; Likely benign; other; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TONIC-CLONIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; drug response; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; drug response; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	drug response; Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCCUPATIONAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA AND RELATED DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tamoxifen response	drug response; Likely benign; other; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONIC-CLONIC EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tramadol response	drug response; Likely benign; other; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	drug response; Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	drug response; Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene))