CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 [Homo sapiens] - Gene

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Summary

Official Symbol: CYP2D6provided by HGNC
Official Full Name: cytochrome P450, family 2, subfamily D, polypeptide 6provided by HGNC
Primary source: HGNC:2625
Locus tag: RP4-669P10.2
See related: Ensembl:ENSG00000100197; HPRD:00487; MIM:124030; Vega:OTTHUMG00000150918
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1; MGC120389; MGC120390
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 localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 22q13.1

Sequence :: Chromosome: 22; NC_000022.10 (42522501..42526883, complement)

See CYP2D6 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

we confirmed a central nervous system effect of CYP2D6 activity in a large independent sample and provide evidence that basic cognitive processes related to such as alertness may be impacted
Title: Genetic variation in CYP2D6 impacts neural activation during cognitive tasks in humans.
A genetic model combining maternal risk genotypes in CYP2D6 and ABCB1 is significantly associated with the adverse outcomes of codeine toxicity in infants and their mothers.
Title: Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markers.
This first comprehensive resequencing analysis of CYP2D6 in Mexican Mestizos provides information about genetic diversity relevant to the development of pharmacogenomics in the Latin American population.
Title: Resequencing, haplotype construction and identification of novel variants of CYP2D6 in Mexican Mestizos.
No significant effect of CYP2D6 genotype on risk of recurrence in breast cancer patients who received adjuvant tamoxifen therapy.
Title: Effect of CYP2D6 polymorphisms on breast cancer recurrence.
We report the identification of a novel and defective variant of the gene encoding cytochrome P450 2D6; it represents a rare subtype of CYP2D6*6 that may be restricted to a single family or a subpopulation.
Title: Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure.
CBD caused potent direct CYP2D6 inhibition, in which two phenolic hydroxyl groups and the pentyl side chain of CBD may play important roles.
Title: Cannabidiol, a major phytocannabinoid, as a potent atypical inhibitor for CYP2D6.
we tested known probe substrate for these enzymes, which included 12 substrates of CYP3A4 and 18 substrates of CYP2C9 and CYP2D6 were analyzed by each software and the results were compared.
Title: Comparison of metabolic soft spot predictions of CYP3A4, CYP2C9 and CYP2D6 substrates using MetaSite and StarDrop.
The peak serum concentration and area under the serum concentration-time curves were significantly different among the ABCB1 3435C>T genotypes in CYP2D6*10/*10.
Title: Influence of ABCB1 genetic polymorphisms on the pharmacokinetics of risperidone in healthy subjects with CYP2D6*10/*10.
The result of the present study showed that CYP2D6*4 is the major nonfunctional allele found in Mazandarani subjects.
Title: Frequencies of three CYP2D6 nonfunctional alleles (CYP2D6*3, *4, and *6) within an Iranian population (Mazandaran).
CYP2D6 genotyping in natives and immigrants from the Emilia-Romagna Region (Italy).
Title: CYP2D6 genotyping in natives and immigrants from the Emilia-Romagna Region (Italy).

Submit: New GeneRIF Correction See all (288)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Source	Pubs	Description
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with (+/-)fluoxetine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with (+/-)norfluoxetine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (S)-methadone.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (R)-methadone.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with Dextromethorphan.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with MPPP.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with PEPAP.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with Meperidine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (d,l)-4-Hydroxymethamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (d,l)-Cathinone.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with PMA.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (+)-Methamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (+)-Amphetamine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with 2,4,6-TMA.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with 3,4,5-TMA.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (+)-4-Hydroxyamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Codeine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Budipine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Debrisoquine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Sparteine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Amitriptyline.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with MPTP.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with (-)Methamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6.1 interacts with Paroxetine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with NOC.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with OXY.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with MMDA-2.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with BUP.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with Nor-BUP.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (d,l)-3-Methoxyamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with (d,l)-2-Methoxyamphetamine.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with MMDA
NP_000097.2	BIND	PubMed	CYP2D6 interacts with MDA.
NP_000097.2	BIND	PubMed	CYP2D6 interacts with MDMA.

Function	Evidence Code	Pubs
aromatase activity	IEA Inferred from Electronic Annotation more info
drug binding	IDA Inferred from Direct Assay more info	PubMed
electron carrier activity	IEA Inferred from Electronic Annotation more info
heme binding	IDA Inferred from Direct Assay more info	PubMed
heme binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
monooxygenase activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
alkaloid catabolic process	IDA Inferred from Direct Assay more info	PubMed
alkaloid metabolic process	IDA Inferred from Direct Assay more info	PubMed
coumarin metabolic process	IDA Inferred from Direct Assay more info	PubMed
drug catabolic process	IDA Inferred from Direct Assay more info	PubMed
drug metabolic process	IDA Inferred from Direct Assay more info	PubMed
drug metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
heterocycle metabolic process	IDA Inferred from Direct Assay more info	PubMed
isoquinoline alkaloid metabolic process	IDA Inferred from Direct Assay more info	PubMed
monoterpenoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of binding	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cellular organofluorine metabolic process	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IDA Inferred from Direct Assay more info	PubMed
oxidative demethylation	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
xenobiotic metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: cytochrome P450 2D6

Names: cytochrome P450 2D6; cytochrome P450-DB1; microsomal monooxygenase; xenobiotic monooxygenase; debrisoquine 4-hydroxylase; flavoprotein-linked monooxygenase; cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2; cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6; cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2

NP_000097.2

EC 1.14.14.1

NP_001020332.1

EC 1.14.14.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008376.1 RefSeqGene

Range

5001..9383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000106.4 → NP_000097.2 cytochrome P450 2D6 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AY663390, BC067432, CB124853

Consensus CDS

CCDS46721.1

UniProtKB/TrEMBL

Q5Y7H2

UniProtKB/TrEMBL

Q6NWU0

Related

ENSP00000353820, OTTHUMP00000198705, ENST00000360608, OTTHUMT00000320525

Conserved Domains (2) summary

pfam00067
Location:58 – 493
Blast Score: 1106

p450; Cytochrome P450

cl12078
Location:61 – 472
Blast Score: 442

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]
NM_001025161.1 → NP_001020332.1 cytochrome P450 2D6 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1, which results in a shorter isoform (2).

Source sequence(s)

AY663390, BC066877, CB124853

Consensus CDS

CCDS33657.1

UniProtKB/TrEMBL

Q5Y7H2

UniProtKB/TrEMBL

Q6NXU8

Related

ENSP00000351927, OTTHUMP00000198706, ENST00000359033, OTTHUMT00000320526

Conserved Domains (2) summary

pfam00067
Location:58 – 442
Blast Score: 939

p450; Cytochrome P450

cl12078
Location:126 – 421
Blast Score: 381

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

42522501..42526883, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

25488519..25492901, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AY545216.1	AAS55001.1
genomic	BX247885.11	CAP58856.1
		CAP58857.1
genomic	CH471095.1	EAW60492.1
		EAW60493.1
genomic	DQ211353.1	ABB01370.1
		ABB01371.1
genomic	DQ211354.1	ABB01372.1
genomic	DQ211355.1	ABB01373.1
genomic	DQ282144.1	ABB77895.1
genomic	DQ282145.1	ABB77896.1
genomic	DQ282146.1	ABB77897.1
genomic	DQ282147.1	ABB77898.1
genomic	DQ282151.1	ABB77899.1
genomic	DQ282152.1	ABB77900.1
genomic	DQ282153.1	ABB77901.1
genomic	DQ282154.1	ABB77902.1
genomic	DQ282155.1	ABB77903.1
genomic	DQ282156.1	ABB77904.1
genomic	DQ282157.1	ABB77905.1
genomic	DQ282158.1	ABB77906.1
genomic	DQ282159.1	ABB77907.1
genomic	DQ282160.1	ABB77908.1
genomic	DQ282162.1	ABB77909.1
genomic	M33189.1	AAA35737.1
genomic	M33388.1	AAA53500.1
mRNA	AK308211.1	None
mRNA	AK309600.1	None
mRNA	AY663389.1	None
mRNA	AY663390.1	AAU87043.1
mRNA	BC066877.1	AAH66877.1
mRNA	BC067432.1	AAH67432.1
mRNA	BC075023.2	AAH75023.1
mRNA	BC075024.2	AAH75024.1
mRNA	BC106757.1	AAI06758.1
mRNA	BC106758.1	AAI06759.1
mRNA	BC126858.1	AAI26859.1
mRNA	BX096000.1	None
mRNA	BX422592.2	None
mRNA	CB124853.1	None
mRNA	CK032845.1	None
mRNA	CR456430.1	CAG30316.1
mRNA	M20403.1	AAA52153.1
mRNA	M24499.1	AAA36403.1
mRNA	X07618.1	None
mRNA	X08006.1	CAA30807.1
mRNA	X16865.1	None
mRNA	X16866.1	None
mRNA	AB209492.1	BAD92729.1
other-genetic	CU013213.1	CAK54644.1
other-genetic	CU013501.1	CAK54943.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P10635.2	GenPept	UniProtKB/Swiss-Prot:P10635
Q007T9	GenPept	UniProtKB/TrEMBL:Q007T9
Q16753	GenPept	UniProtKB/TrEMBL:Q16753
Q16804	GenPept	UniProtKB/TrEMBL:Q16804
Q2XND0	GenPept	UniProtKB/TrEMBL:Q2XND0
Q2XND2	GenPept	UniProtKB/TrEMBL:Q2XND2
Q2XND3	GenPept	UniProtKB/TrEMBL:Q2XND3
Q2XND8	GenPept	UniProtKB/TrEMBL:Q2XND8
Q38LF9	GenPept	UniProtKB/TrEMBL:Q38LF9
Q38LG0	GenPept	UniProtKB/TrEMBL:Q38LG0
Q38LG2	GenPept	UniProtKB/TrEMBL:Q38LG2
Q3KPF3	GenPept	UniProtKB/TrEMBL:Q3KPF3
Q59FG8	GenPept	UniProtKB/TrEMBL:Q59FG8
Q5Y7H2	GenPept	UniProtKB/TrEMBL:Q5Y7H2
Q6ICD8	GenPept	UniProtKB/TrEMBL:Q6ICD8
Q6NWU0	GenPept	UniProtKB/TrEMBL:Q6NWU0
Q6NXU8	GenPept	UniProtKB/TrEMBL:Q6NXU8