CYP2D6 cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2D6provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:2625
See related: Ensembl:ENSG00000100197 MIM:124030; AllianceGenome:HGNC:2625
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
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 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Expression: Biased expression in liver (RPKM 40.1), small intestine (RPKM 14.6) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42126499..42130810, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42605990..42610301, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42522501..42526812, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population.
Title: Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population.
Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population.
Title: Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population.
CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control Study.
Title: CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control Study.
Clinical and Adverse Outcomes Associated With Concomitant Use of CYP2D6-Metabolized Opioids With Antidepressants in Older Nursing Home Residents : A Target Trial Emulation Study.
Title: Clinical and Adverse Outcomes Associated With Concomitant Use of CYP2D6-Metabolized Opioids With Antidepressants in Older Nursing Home Residents : A Target Trial Emulation Study.
The potential Role of CYP2D6*10(c.100 C>T) Gene Polymorphism in Kidney Injury of Patients with Hypertension Complicated with Non-Elevated Cystatin C.
Title: The potential Role of CYP2D6*10(c.100 C>T) Gene Polymorphism in Kidney Injury of Patients with Hypertension Complicated with Non-Elevated Cystatin C.
Molecular Mechanisms Underlying Single Nucleotide Polymorphism-Induced Reactivity Decrease in CYP2D6.
Title: Molecular Mechanisms Underlying Single Nucleotide Polymorphism-Induced Reactivity Decrease in CYP2D6.
Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis.
Title: Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis.
Prevalence of CYP2D6 structural variation in large retrospective study.
Title: Prevalence of CYP2D6 structural variation in large retrospective study.
Effects of CYP2D6 *10 and *41 Variants in Healthy Chinese Men on the Pharmacokinetics of Dapoxetine.
Title: Effects of CYP2D6 *10 and *41 Variants in Healthy Chinese Men on the Pharmacokinetics of Dapoxetine.
Investigation of the Differences in the Pharmacokinetics of CYP2D6 Substrates, Desipramine, and Dextromethorphan in Healthy African Subjects Carrying the Allelic Variants CYP2D6*17 and CYP2D6*29, When Compared with Normal Metabolizers.
Title: Investigation of the Differences in the Pharmacokinetics of CYP2D6 Substrates, Desipramine, and Dextromethorphan in Healthy African Subjects Carrying the Allelic Variants CYP2D6*17 and CYP2D6*29, When Compared with Normal Metabolizers.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amitriptyline response MedGen: CN176769 GeneReviews: Not available	not available
Clozapine response MedGen: CN077971 GeneReviews: Not available	not available
Codeine response MedGen: C1837160 GeneReviews: Not available	not available
Desipramine response MedGen: CN233052 GeneReviews: Not available	not available
Deutetrabenazine response MedGen: CN258189 GeneReviews: Not available	not available
Disorder due cytochrome p450 CYP2D6 variant MedGen: C1837154 OMIM: 608902 GeneReviews: Not available	not available
Doxepin response MedGen: CN077978 GeneReviews: Not available	not available
Eliglustat response MedGen: CN427420 GeneReviews: Not available	not available
Fluvoxamine response MedGen: CN221254 GeneReviews: Not available	not available
Imipramine response MedGen: CN221257 GeneReviews: Not available	not available
Nortriptyline response MedGen: C1837159 GeneReviews: Not available	not available
Ondansetron response MedGen: CN417142 GeneReviews: Not available	not available
Paroxetine response MedGen: CN221255 GeneReviews: Not available	not available
Primaquine response MedGen: CN322745 GeneReviews: Not available	not available
Selective serotonin reuptake inhibitor response MedGen: CN221268 GeneReviews: Not available	not available
Tamoxifen response MedGen: CN078013 GeneReviews: Not available	not available
Thioridazine response MedGen: CN078018 GeneReviews: Not available	not available
Tramadol response MedGen: CN078023 GeneReviews: Not available	not available
Trimipramine response MedGen: CN221259 GeneReviews: Not available	not available
Tropisetron response MedGen: CN417143 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of cytochrome p450 family proteins CYP2E1, CYP2D6, and CYP2B6 in astrocytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:632773 (e-PCR)
- UniSTS:158487

GDB:632777 (e-PCR)
- UniSTS:158488

GDB:632780 (e-PCR)
- UniSTS:158489

GDB:632785 (e-PCR)
- UniSTS:158490

GDB:632790 (e-PCR)
- UniSTS:158491

GDB:632800 (e-PCR)
- UniSTS:158493

STS-M33189 (e-PCR)
- UniSTS:10271

PMC156606P1 (e-PCR)
- UniSTS:271408

GDB:222783 (e-PCR)
- UniSTS:156236

NoName (e-PCR)
- UniSTS:486996

RH27796 (e-PCR)
- UniSTS:87699

GDB:187815 (e-PCR)
- UniSTS:155569

GDB:187817 (e-PCR)
- UniSTS:155570

GDB:270292 (e-PCR)
- UniSTS:156348

NoName (e-PCR)
- UniSTS:482281

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables anandamide 11,12 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables anandamide 14,15 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables anandamide 8,9 epoxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	TAS Traceable Author Statement more info
enables oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables 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 Inferred from Biological aspect of Ancestor more info
enables 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 Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in alkaloid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in alkaloid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in arachidonate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in coumarin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in isoquinoline alkaloid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty acid biosynthetic process	TAS Traceable Author Statement more info
involved_in monoterpenoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of organofluorine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in oxidative demethylation	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome P450 2D6

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

NP_000097.3

EC 1.14.14.1

NP_001020332.2

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

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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.