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CYP2D6 Gene(Protein Coding)

Cytochrome P450 Family 2 Subfamily D Member 6

GCID:
GC22M042126
GIFtS:
74
Genes Participants
UDN Logo

Aliases for CYP2D6 Gene

Aliases for CYP2D6 Gene

  • Cytochrome P450 Family 2 Subfamily D Member 6 2 3 5
  • Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 8 Pseudogene 2 2 3
  • Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 7 Pseudogene 2 2 3
  • Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing), Polypeptide 6 2 3
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 2 2 3
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 8 Pseudogene 2 2 3
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6 2 3
  • Cholesterol 25-Hydroxylase 3 4
  • Debrisoquine 4-Hydroxylase 3 4
  • Cytochrome P450-DB1 3 4
  • EC 1.14.14.1 4 63
  • CYP2DL1 3 4
  • CYPIID6 3 4
  • Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing)-Like 1 3
  • Flavoprotein-Linked Monooxygenase 3
  • Nonfunctional Cytochrome P450 2D6 3
  • Microsomal Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • P450-DB1 3
  • CYP2D7AP 3
  • CYP2D7BP 3
  • CYP2D7P2 3
  • CYP2D8P2 3
  • P450C2D 3
  • P450DB1 3
  • CYP2D 3
  • CPD6 3

External Ids for CYP2D6 Gene

Previous HGNC Symbols for CYP2D6 Gene

  • CYP2DL1
  • CYP2D7P2
  • CYP2D7BP
  • CYP2D8P2
  • CYP2D7AP

Previous GeneCards Identifiers for CYP2D6 Gene

  • GC22U990011
  • GC22M039139
  • GC22M040766
  • GC22M040768
  • GC22M040769
  • GC22M040848
  • GC22M040849
  • GC22M040852
  • GC22M042522
  • GC22M025488

Summaries for CYP2D6 Gene

Entrez Gene Summary for CYP2D6 Gene

  • 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]

GeneCards Summary for CYP2D6 Gene

CYP2D6 (Cytochrome P450 Family 2 Subfamily D Member 6) is a Protein Coding gene. Diseases associated with CYP2D6 include Debrisoquine Sensitivity and Cyp2d6-Related Altered Drug Metabolism. Among its related pathways are Phenytoin Pathway, Pharmacokinetics and Statin Pathway - Generalized, Pharmacokinetics. GO annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP2C19.

UniProtKB/Swiss-Prot for CYP2D6 Gene

  • Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants.

Gene Wiki entry for CYP2D6 Gene

PharmGKB "VIP" Summary for CYP2D6 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2D6 Gene

Genomics for CYP2D6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CYP2D6 Gene

Enhancers for CYP2D6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP2D6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CYP2D6 gene promoter:

Genomic Location for CYP2D6 Gene

Chromosome:
22
Start:
42,125,656 bp from pter
End:
42,135,378 bp from pter
Size:
9,723 bases
Orientation:
Minus strand

Genomic View for CYP2D6 Gene

Genes around CYP2D6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2D6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2D6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP2D6 Gene

Proteins for CYP2D6 Gene

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  • Protein details for CYP2D6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10635-CP2D6_HUMAN
    Recommended name:
    Cytochrome P450 2D6
    Protein Accession:
    P10635
    Secondary Accessions:
    • Q16752
    • Q2XND6
    • Q2XND7
    • Q2XNE0
    • Q6B012
    • Q6NXU8

    Protein attributes for CYP2D6 Gene

    Size:
    497 amino acids
    Molecular mass:
    55769 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP2D6 Gene

    Alternative splice isoforms for CYP2D6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP2D6 Gene

Proteomics data for CYP2D6 Gene at MOPED

Protein Expression for CYP2D6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CYP2D6 Gene

P10635:

Post-translational modifications for CYP2D6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2D6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYP2D6 (CYP2D6)

Domains & Families for CYP2D6 Gene

Gene Families for CYP2D6 Gene

HGNC:
IUPHAR :

Protein Domains for CYP2D6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP2D6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10635

UniProtKB/Swiss-Prot:

CP2D6_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2D6: view

Function for CYP2D6 Gene

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  2. CRISPR
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  7. Flow Cytometry

Molecular function for CYP2D6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
RH + [reduced NADPH--hemoprotein reductase] + O(2) = ROH + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Function:
Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants.
UniProtKB/Swiss-Prot Induction:
By pregnancy.

Enzyme Numbers (IUBMB) for CYP2D6 Gene

Phenotypes for CYP2D6 Gene

GenomeRNAi human phenotypes for CYP2D6:
genes like me logo Genes that share phenotypes with CYP2D6: view

Animal Model Products

CRISPR Products

miRNA for CYP2D6 Gene

miRTarBase miRNAs that target CYP2D6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYP2D6 Gene

Localization for CYP2D6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2D6 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP2D6 Gene COMPARTMENTS Subcellular localization image for CYP2D6 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
cytosol 3
extracellular 2
golgi apparatus 2
nucleus 2
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CYP2D6 Gene

Pathways & Interactions for CYP2D6 Gene

genes like me logo Genes that share pathways with CYP2D6: view

Interacting Proteins for CYP2D6 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353820%0d%0a9606.ENSP00000303174%0d%0a9606.ENSP00000304811%0d%0a9606.ENSP00000362525%0d%0a9606.ENSP00000340684%0d%0a9606.ENSP00000301141%0d%0a
Selected Interacting proteins: ENSP00000353820 P10635-CP2D6_HUMAN for CYP2D6 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CYP2D6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS 19438707
GO:0009804 coumarin metabolic process IDA 19438707
GO:0016098 monoterpenoid metabolic process IDA 16401082
GO:0019369 arachidonic acid metabolic process IBA --
GO:0046483 heterocycle metabolic process IDA 15327587
genes like me logo Genes that share ontologies with CYP2D6: view

No data available for SIGNOR curated interactions for CYP2D6 Gene

Drugs & Compounds for CYP2D6 Gene

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  1. Drug

(505) Drugs for CYP2D6 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aripiprazole Approved, Investigational Pharma Antagonist, Enzyme, substrate, inhibitor, inducer Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 343
Citalopram Approved Pharma Enzyme, substrate, inhibitor 497
Clomipramine Approved Pharma Enzyme, substrate, inhibitor 24
Codeine Approved, Illicit Pharma Full agonist, Agonist, Enzyme, substrate, inhibitor 69
Desipramine Approved Pharma Enzyme, substrate, inhibitor 39

(97) Additional Compounds for CYP2D6 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
 7782-44-7
Paraxanthine
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
 611-59-6
11,12,15-THETA
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
 81276-02-0

(4) ApexBio Compounds for CYP2D6 Gene

Compound Action Cas Number
Abiraterone acetate Cytochrome p450 17a1 inhibitor 154229-18-2
Avasimibe ACAT inhibitor,orally bioavailable 166518-60-1
Ifosfamide Cytostatic agent 3778-73-2
Ketoconazole Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase 65277-42-1
genes like me logo Genes that share compounds with CYP2D6: view

Transcripts for CYP2D6 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for CYP2D6 Gene

(14) REFSEQ mRNAs :
(24) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP2D6 Gene

Cytochrome P450, family 2, subfamily D, polypeptide 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2D6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: -
SP2: - -
SP3:
SP4: - -
SP5: -
SP6: - - - - - - - - - - - - - - - -
SP7:
SP8: -
SP9:
SP10:
SP11: - - - - - - - - - -
SP12:
SP13: - -

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: - - - - -
SP12:
SP13:

Relevant External Links for CYP2D6 Gene

GeneLoc Exon Structure for
CYP2D6
ECgene alternative splicing isoforms for
CYP2D6

Expression for CYP2D6 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for CYP2D6 Gene

mRNA expression in normal human tissues for CYP2D6 Gene
mRNA expression by BioGPS for CYP2D6 GenemRNA expression by GTEx for CYP2D6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2D6 Gene

This gene is overexpressed in Liver (x40.6).

Protein differential expression in normal tissues from HIPED for CYP2D6 Gene

This gene is overexpressed in Liver (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP2D6 Gene



SOURCE GeneReport for Unigene cluster for CYP2D6 Gene Hs.333497

genes like me logo Genes that share expression patterns with CYP2D6: view

Protein tissue co-expression partners for CYP2D6 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CYP2D6 Gene

Orthologs for CYP2D6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP2D6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CYP2D6 35
  • 98.52 (n)
  • 98.59 (a)
CYP2D6 36
  • 96 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cyp2d3 35
  • 76.54 (n)
  • 72.62 (a)
cow
(Bos Taurus)
 Mammalia -- 36
  • 74 (a)
 OneToMany
MGC127055 36
  • 77 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia CYP2D6 36
  • 58 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cyp2d10 36
  • 69 (a)
 OneToMany
Cyp2d11 36
  • 67 (a)
 OneToMany
Cyp2d12 36
  • 67 (a)
 OneToMany
Cyp2d22 36
  • 75 (a)
 OneToMany
Cyp2d26 36
  • 71 (a)
 OneToMany
Cyp2d34 36
  • 68 (a)
 OneToMany
Cyp2d40 36
  • 71 (a)
 OneToMany
Cyp2d9 36
  • 69 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia CYP2D6 36
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CYP2D6 35
  • 60.03 (n)
  • 56.26 (a)
GGA.10540 36
  • 55 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CYP2D6 36
  • 48 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cyp2d6 35
  • 58.32 (n)
  • 54.62 (a)
zebrafish
(Danio rerio)
 Actinopterygii cyp2aa1 36
  • 38 (a)
 ManyToMany
cyp2aa11 36
  • 40 (a)
 ManyToMany
cyp2aa12 36
  • 41 (a)
 ManyToMany
cyp2aa2 36
  • 39 (a)
 ManyToMany
cyp2aa3 36
  • 38 (a)
 ManyToMany
cyp2aa4 36
  • 38 (a)
 ManyToMany
cyp2aa7 36
  • 40 (a)
 ManyToMany
cyp2aa8 36
  • 37 (a)
 ManyToMany
cyp2aa9 36
  • 37 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Cyp18a1 37
  • 34 (a)
Cyp303a1 37
  • 29 (a)
Cyp305a1 37
  • 30 (a)
Cyp307a1 37
  • 27 (a)
worm
(Caenorhabditis elegans)
 Secernentea B0304.3 37
  • 33 (a)
C12D5.7 37
  • 31 (a)
C34B7.3 37
  • 29 (a)
C45H4.2 37
  • 31 (a)
C50H11.15 37
  • 33 (a)
F41B5.3 37
  • 32 (a)
F41B5.4 37
  • 32 (a)
F41B5.7 37
  • 30 (a)
F42A9.5 37
  • 29 (a)
F44C8.1 37
  • 32 (a)
K09A11.2 37
  • 31 (a)
K09A11.3 37
  • 33 (a)
K09A11.4 37
  • 36 (a)
Y49C4A.9 37
  • 33 (a)
Y5H2B.6 37
  • 32 (a)
Species with no ortholog for CYP2D6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP2D6 Gene

ENSEMBL:
Gene Tree for CYP2D6 (if available)
TreeFam:
Gene Tree for CYP2D6 (if available)

Paralogs for CYP2D6 Gene

Paralogs for CYP2D6 Gene

(32) SIMAP similar genes for CYP2D6 Gene using alignment to 39 proteins:

Pseudogenes.org Pseudogenes for CYP2D6 Gene

genes like me logo Genes that share paralogs with CYP2D6: view

Variants for CYP2D6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2D6 Gene

CP2D6_HUMAN-P10635
Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs. Different alleles are known, including CYP2D6*1 (PubMed:15768052), CYP2D6*2 (PubMed:25469868), CYP2D6*6B/6C (PubMed:7868129), CYP2D6*7 also known CYP2D6E (PubMed:7845481), CYP2D6*9 also known CYP2D6C (PubMed:1844820), CYP2D6*10 also known CYP2D6J (PubMed:8287064, PubMed:25469868), CYP2D6*12 (PubMed:8655150), CYP2D6*14 (PubMed:10064570), CYP2D6*17 also known CYP2D6Z (PubMed:8971426), CYP2D6*41B (PubMed:15768052), CYP2D6*45A (PubMed:15768052), CYP2D6*45B (PubMed:15768052), CYP2D6*46 (PubMed:15768052), CYP2D6*87 (PubMed:25469868), CYP2D6*88 (PubMed:25469868), CYP2D6*89 (PubMed:25469868), CYP2D6*90 (PubMed:25469868), CYP2D6*91 (PubMed:25469868), CYP2D6*93 (PubMed:25469868), C CYP2D6*94 (PubMed:25469868), CYP2D6*97 (PubMed:25469868) and CYP2D6*98 (PubMed:25469868). Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional (PubMed:15768052).

Sequence variations from dbSNP and Humsavar for CYP2D6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_001256 -
VAR_008336 -
VAR_008337 -
VAR_008338 -
VAR_008339 -

Structural Variations from Database of Genomic Variants (DGV) for CYP2D6 Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV Insertion 20534489
nsv834210 CNV Loss 17160897
nsv915161 CNV Loss 21882294
dgv4981n71 CNV Loss 21882294
nsv3641 CNV Loss 18451855
nsv915164 CNV Loss 21882294
nsv3642 CNV Insertion 18451855
esv27312 CNV Gain+Loss 19812545
nsv829243 CNV Loss 20364138
nsv915165 CNV Loss 21882294
esv2724275 CNV Deletion 23290073
nsv498989 CNV Loss 21111241
nsv436350 CNV Deletion 17901297
esv2171396 CNV Deletion 18987734
esv6632 CNV Loss 19470904
esv33893 CNV Gain+Loss 17666407
dgv780e201 CNV Deletion 23290073

Variation tolerance for CYP2D6 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.26; 92.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP2D6 Gene

Human Gene Mutation Database (HGMD)
CYP2D6
The Human Cytochrome P450 Allele Nomenclature Database
CYP2D6

Disorders for CYP2D6 Gene

MalaCards: The human disease database

(39) MalaCards diseases for CYP2D6 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Genatlas disease for CYP2D6 Gene

debrisoquine sensitivity (poor metabolizer,CYP2D6 mutant) including neuroleptic malignant syndrome,putative susceptibility gene for leukemia

Relevant External Links for CYP2D6

Genetic Association Database (GAD)
CYP2D6
Human Genome Epidemiology (HuGE) Navigator
CYP2D6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP2D6
genes like me logo Genes that share disorders with CYP2D6: view

No data available for UniProtKB/Swiss-Prot for CYP2D6 Gene

Publications for CYP2D6 Gene

  1. A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity. (PMID: 8971426) Masimirembwa C. … Ingelman-Sundberg M. (Br. J. Clin. Pharmacol. 1996) 3 4 23 48 67
  2. Polymorphism of human cytochrome P450 2D6 and its clinical significance: part II. (PMID: 19902987) Zhou S.F. (Clin Pharmacokinet 2009) 3 23 25 26
  3. A phenotype-genotype approach to predicting CYP450 and P-glycoprotein drug interactions with the mixed inhibitor/inducer tipranavir/ritonavir. (PMID: 20147896) Dumond J.B. … Kashuba A.D. (Clin. Pharmacol. Ther. 2010) 3 25 26
  4. The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone. (PMID: 20590587) Samer C.F. … Desmeules J.A. (Br. J. Pharmacol. 2010) 3 25 26
  5. CYP2D6 polymorphisms and tamoxifen metabolism: clinical relevance. (PMID: 20425602) Higgins M.J. … Stearns V. (Curr Oncol Rep 2010) 23 25 26

Products for CYP2D6 Gene

Sources for CYP2D6 Gene

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