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Aliases for CYP2D6 Gene

Aliases for CYP2D6 Gene

  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6 2 3
  • 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
  • Debrisoquine 4-Hydroxylase 3 4
  • Cytochrome P450-DB1 3 4
  • EC 1.14.14.1 4 64
  • P450DB1 3 6
  • CYP2DL1 3 4
  • CYPIID6 3 4
  • CPD6 3 6
  • Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing)-Like 1 3
  • Flavoprotein-Linked Monooxygenase 3
  • Microsomal Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • Cytochrome P450 2D6 3
  • CYP2D7AP 3
  • P450-DB1 3
  • CYP2D7BP 3
  • CYP2D7P2 3
  • CYP2D8P2 3
  • P450C2D 3
  • CYP2D 3

External Ids for CYP2D6 Gene

Previous Symbols for CYP2D6 Gene

  • CYP2DL1
  • CYP2D7P2
  • CYP2D7BP
  • CYP2D8P2
  • CYP2D7AP

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, Polypeptide 6) is a Protein Coding gene. Diseases associated with CYP2D6 include cytochrome p450 2d6 variant and pseudobulbar affect. Among its related pathways are Metabolism and Nicotinate and nicotinamide metabolism. GO annotations related to this gene include electron carrier 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

Genomic Location for CYP2D6 Gene

Start:
42,126,499 bp from pter
End:
42,130,906 bp from pter
Size:
4,408 bases
Orientation:
Minus strand

Genomic View for CYP2D6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP2D6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2D6 Gene

Regulatory Elements for CYP2D6 Gene

Proteins for CYP2D6 Gene

  • 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

Post-translational modifications for CYP2D6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2D6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CYP2D6 Gene

Gene Families for CYP2D6 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

UniProtKB/Swiss-Prot:

CP2D6_HUMAN
Family:
  • Belongs to the cytochrome P450 family.:
    • P10635
genes like me logo Genes that share domains with CYP2D6: view

Function for CYP2D6 Gene

Molecular function for CYP2D6 Gene

UniProtKB/Swiss-Prot CatalyticActivity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + 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

Gene Ontology (GO) - Molecular Function for CYP2D6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IDA 15327587
GO:0005506 iron ion binding IEA --
GO:0008144 drug binding IDA 19448135
GO:0008392 arachidonic acid epoxygenase activity IBA --
GO:0008395 steroid hydroxylase activity IBA --
genes like me logo Genes that share ontologies with CYP2D6: view

Phenotypes for CYP2D6 Gene

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

miRNA for CYP2D6 Gene

miRTarBase miRNAs that target CYP2D6

No data available for Animal Models , Transcription Factor Targeting 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 4
cytosol 2
nucleus 2
extracellular 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP2D6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19438707
GO:0005783 endoplasmic reticulum TAS 19438707
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CYP2D6: view

Pathways for CYP2D6 Gene

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

Interacting Proteins for CYP2D6 Gene

Gene Ontology (GO) - Biological Process for CYP2D6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS 19438707
GO:0008202 steroid metabolic process IMP 18356043
GO:0009804 coumarin metabolic process IDA 19438707
GO:0009820 alkaloid metabolic process IDA 19651758
GO:0009822 alkaloid catabolic process IDA 15039299
genes like me logo Genes that share ontologies with CYP2D6: view

Compounds for CYP2D6 Gene

(70) HMDB Compounds for CYP2D6 Gene

Compound Synonyms Cas Number PubMed IDs
10-HETE
  • 10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate
167697-52-1
11,12,15-THETA
  • 11,12,15-Trihydroxyicosatrienoic acid
Not Available
11,12-Epoxyeicosatrienoic acid
  • 10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid
81276-02-0
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
Not Available
11beta-Hydroxytestosterone
  • 11beta,17beta-dihydroxyandrost-4-en-3-one
1816-85-9

(305) Drugbank Compounds for CYP2D6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1-(2-Phenylethyl)-4-phenyl-4-acetoxypiperidine
  • 1-(2-Phenethyl)-4-phenyl-4-acetoxypiperidine
64-52-8 enzyme
4-Methoxyamphetamine
23239-32-9 enzyme substrate
Abiraterone
154229-19-3 enzyme inhibitor
Acebutolol
  • Acebutolol HCL
37517-30-9 enzyme inhibitor
Acetaminophen
  • Acetaminofen
103-90-2 enzyme substrate

(156) Novoseek inferred chemical compound relationships for CYP2D6 Gene

Compound -log(P) Hits PubMed IDs
debrisoquine 96.9 170
bufuralol 93.4 44
sparteine 91.2 47
quinidine 88.3 91
dextrorphan 84.7 25
genes like me logo Genes that share compounds with CYP2D6: view

Transcripts for CYP2D6 Gene

Unigene Clusters for CYP2D6 Gene

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

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

mRNA expression in normal human tissues 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 (40.6).

Integrated Proteomics: protein expression 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 expressions with CYP2D6: view

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 36
  • 98.52 (n)
  • 98.59 (a)
CYP2D6 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 74 (a)
OneToMany
MGC127055 37
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cyp2d10 37
  • 69 (a)
OneToMany
Cyp2d11 37
  • 67 (a)
OneToMany
Cyp2d12 37
  • 67 (a)
OneToMany
Cyp2d22 16
Cyp2d22 37
  • 75 (a)
OneToMany
Cyp2d26 37
  • 71 (a)
OneToMany
Cyp2d34 37
  • 68 (a)
OneToMany
Cyp2d40 37
  • 71 (a)
OneToMany
Cyp2d9 37
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CYP2D6 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2D6 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2d3 36
  • 76.54 (n)
  • 72.62 (a)
chicken
(Gallus gallus)
Aves CYP2D6 36
  • 60.03 (n)
  • 56.26 (a)
GGA.10540 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP2D6 37
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2d6 36
  • 58.32 (n)
  • 54.62 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp2aa1 37
  • 38 (a)
ManyToMany
cyp2aa11 37
  • 40 (a)
ManyToMany
cyp2aa12 37
  • 41 (a)
ManyToMany
cyp2aa2 37
  • 39 (a)
ManyToMany
cyp2aa3 37
  • 38 (a)
ManyToMany
cyp2aa4 37
  • 38 (a)
ManyToMany
cyp2aa7 37
  • 40 (a)
ManyToMany
cyp2aa8 37
  • 37 (a)
ManyToMany
cyp2aa9 37
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cyp307a1 38
  • 27 (a)
Cyp305a1 38
  • 30 (a)
Cyp18a1 38
  • 34 (a)
Cyp303a1 38
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea Y5H2B.6 38
  • 32 (a)
F42A9.5 38
  • 29 (a)
C45H4.2 38
  • 31 (a)
Y49C4A.9 38
  • 33 (a)
F41B5.7 38
  • 30 (a)
K09A11.3 38
  • 33 (a)
C34B7.3 38
  • 29 (a)
C50H11.15 38
  • 33 (a)
K09A11.4 38
  • 36 (a)
F41B5.3 38
  • 32 (a)
C12D5.7 38
  • 31 (a)
F44C8.1 38
  • 32 (a)
B0304.3 38
  • 33 (a)
F41B5.4 38
  • 32 (a)
K09A11.2 38
  • 31 (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

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

P10635-CP2D6_HUMAN
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 MAF
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

Relevant External Links for CYP2D6 Gene

HapMap Linkage Disequilibrium report
CYP2D6
Human Gene Mutation Database (HGMD)
CYP2D6
Locus Specific Mutation Databases (LSDB)
CYP2D6
The Human Cytochrome P450 Allele Nomenclature Database
CYP2D6

Disorders for CYP2D6 Gene

(1) OMIM Diseases for CYP2D6 Gene (124030)

(71) Novoseek inferred disease relationships for CYP2D6 Gene

Disease -log(P) Hits PubMed IDs
hepatitis autoimmune 71.3 28
neuroleptic malignant syndrome 47 9
parkinson disease 44 47
genetic susceptibility 42 4
hepatitis c chronic 35.6 11

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
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 missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine. (PMID: 7845481) Evert B. … Eichelbaum M. (Naunyn Schmiedebergs Arch. Pharmacol. 1994) 3 4 23 49
  2. 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 49
  3. Impact of CYP2D6 genotype on steady-state serum concentrations of risperidone and 9-hydroxyrisperidone in patients using long-acting injectable risperidone. (PMID: 19910717) Hendset M. … Hermann M. (J Clin Psychopharmacol 2009) 3 23 25 49
  4. An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine. (PMID: 8655150) Marez D. … Broly F. (Hum. Genet. 1996) 3 4 23
  5. The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site. (PMID: 1978565) Hanioka N. … Gonzalez F.J. (Am. J. Hum. Genet. 1990) 3 23 49

Products for CYP2D6 Gene

Sources for CYP2D6 Gene

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