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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 61
  • 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
  • Cytochrome P450 2D6 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]

CIViC summary for CYP2D6 Gene

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 Cytochrome P450 - arranged by substrate type and Paroxetine Pathway, Pharmacokinetics. GO annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP2D7.

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

Regulatory Elements for CYP2D6 Gene

Enhancers for CYP2D6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G042088 1.4 FANTOM5 ENCODE 53.3 +45.1 45098 3.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 SMDT1 CYP2D6 NDUFA6 PHF5A EP300 NAGA ENSG00000232754 NDUFA6-AS1 NFAM1 CENPM
GH22G042131 0.7 FANTOM5 92.3 +3.5 3505 0.4 ZNF791 GABPB1 CEBPG YY1 TEAD3 CYP2D6 RPL5P34 PHF5A RN7SKP80 ENSG00000227370 LOC102723722
GH22G042120 1.2 Ensembl ENCODE 48.3 +14.4 14410 1.5 PKNOX1 ZFP64 SP5 REST ZNF623 ZNF518A SMARCA4 ETV4 KDM1A HNF4A SMDT1 CYP2D6 RPL5P34 PHF5A LOC100506679 XRCC6 NDUFA6-AS1 SNU13 RN7SKP80 ENSG00000235513
GH22G042069 1.1 ENCODE 50.1 +64.8 64844 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 ZHX2 SMDT1 CYP2D6 WBP2NL NDUFA6-AS1 NAGA GC22P042034 PIR41640
GH22G042077 1.2 ENCODE 44.1 +56.1 56117 3.9 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SMDT1 EP300 CYP2D6 RPL5P34 PHF5A XRCC6 RN7SKP80 LOC100506679 TOB2 RRP7BP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP2D6 on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for CYP2D6 Gene

P10635:
  • EAFLPFS
  • VTTSTTL
  • EKAKGNPESSFND
  • NTPYCFDQLRRRFG
  • TSRDIEVQ
  • QLDELLTEHRMTWDPAQPPRDLTEAFLAEMEK
  • RFHPEHFLDAQG
  • PFSAGRRACLGEPLARMELFLFFT
  • NLSSVLK
  • AVIHEVQRF
  • GEDTADRPPVPI
  • GRPFRPNGLLDKAVSNVIASLTC
  • GLGKKSLEQWVT
  • GKKSLEQWVTEEA
  • LARYGPAWR
  • TLAWGLLLMILHPDVQRRVQQEIDDVIG
  • LLVDLMHRRQRWAARYPPGP
  • VIGQVRRPEM
  • LSSVLKD
  • GRRFEYDDPR

Post-translational modifications for CYP2D6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYP2D6 (CYP2D6)
  • Cloud-Clone Corp. Antibodies for CYP2D6
  • Santa Cruz Biotechnology (SCBT) Antibodies for CYP2D6

Domains & Families for CYP2D6 Gene

Gene Families for CYP2D6 Gene

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

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

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:0016491 oxidoreductase activity IEA,IDA 15039299
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP2D6: view
genes like me logo Genes that share phenotypes with CYP2D6: view

Animal Model Products

miRNA for CYP2D6 Gene

miRTarBase miRNAs that target CYP2D6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2D6 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
cytosol 3
extracellular 2
nucleus 2
golgi apparatus 2
plasma membrane 1
peroxisome 1
lysosome 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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP2D6: view

Pathways & Interactions for CYP2D6 Gene

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

Gene Ontology (GO) - Biological Process for CYP2D6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
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
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

(574) 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 358
Citalopram Approved Pharma Enzyme, substrate, inhibitor 512
Clomipramine Approved, Vet_approved Pharma Enzyme, substrate, inhibitor 24
Codeine Approved, Illicit Pharma Full agonist, Agonist, Enzyme, substrate, inhibitor 77
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
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
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate

(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

Unigene Clusters for CYP2D6 Gene

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

Inhibitory RNA Products

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CYP2D6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2D6 Gene:

CYP2D6

SOURCE GeneReport for Unigene cluster for CYP2D6 Gene:

Hs.333497

Evidence on tissue expression from TISSUES for CYP2D6 Gene

  • Liver(4.9)
  • Nervous system(3.2)
  • Blood(3.1)
  • Urine(2.7)
  • Kidney(2.6)
  • Intestine(2.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with CYP2D6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 98.52 (n)
cow
(Bos Taurus)
Mammalia MGC127055 35
  • 77 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cyp2d3 34
  • 76.54 (n)
mouse
(Mus musculus)
Mammalia Cyp2d22 35
  • 75 (a)
OneToMany
Cyp2d26 35
  • 71 (a)
OneToMany
Cyp2d40 35
  • 71 (a)
OneToMany
Cyp2d10 35
  • 69 (a)
OneToMany
Cyp2d9 35
  • 69 (a)
OneToMany
Cyp2d34 35
  • 68 (a)
OneToMany
Cyp2d11 35
  • 67 (a)
OneToMany
Cyp2d12 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CYP2D6 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2D6 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP2D6 34
  • 60.03 (n)
GGA.10540 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP2D6 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2d6 34
  • 58.32 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp2aa12 35
  • 41 (a)
ManyToMany
cyp2aa11 35
  • 40 (a)
ManyToMany
cyp2aa7 35
  • 40 (a)
ManyToMany
cyp2aa2 35
  • 39 (a)
ManyToMany
cyp2aa1 35
  • 38 (a)
ManyToMany
cyp2aa3 35
  • 38 (a)
ManyToMany
cyp2aa4 35
  • 38 (a)
ManyToMany
cyp2aa8 35
  • 37 (a)
ManyToMany
cyp2aa9 35
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 36
  • 34 (a)
Cyp305a1 36
  • 30 (a)
Cyp303a1 36
  • 29 (a)
Cyp307a1 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea K09A11.4 36
  • 36 (a)
B0304.3 36
  • 33 (a)
C50H11.15 36
  • 33 (a)
K09A11.3 36
  • 33 (a)
Y49C4A.9 36
  • 33 (a)
F41B5.3 36
  • 32 (a)
F41B5.4 36
  • 32 (a)
F44C8.1 36
  • 32 (a)
Y5H2B.6 36
  • 32 (a)
C12D5.7 36
  • 31 (a)
C45H4.2 36
  • 31 (a)
K09A11.2 36
  • 31 (a)
F41B5.7 36
  • 30 (a)
C34B7.3 36
  • 29 (a)
F42A9.5 36
  • 29 (a)
Species where no ortholog for CYP2D6 was found in the sources mined by GeneCards:
  • 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

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
rs1045016346 -- 42,125,433(+) AACTC(A/T)TGGGC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1058170 --
rs1058172 --
rs1065852 --
rs1080988 -- 42,132,027(-) aaaaa(AAAAGG/GA)aTTAG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1319e212 CNV gain 25503493
dgv1320e212 CNV loss 25503493
dgv733e201 CNV deletion 23290073
dgv841e214 CNV gain 21293372
esv2171396 CNV deletion 18987734
esv2724275 CNV deletion 23290073
esv27312 CNV gain+loss 19812545
esv33893 CNV gain+loss 17666407
esv3446082 CNV duplication 20981092
esv3449611 CNV duplication 20981092
esv3568417 CNV loss 25503493
esv3575484 CNV gain 25503493
esv3647809 CNV loss 21293372
esv6632 CNV loss 19470904
nsv1076539 CNV duplication 25765185
nsv1110402 CNV duplication 24896259
nsv1139782 CNV duplication 24896259
nsv3641 CNV deletion 18451855
nsv3642 CNV insertion 18451855
nsv3643 CNV insertion 18451855
nsv436350 CNV deletion 17901297
nsv498989 CNV loss 21111241
nsv508737 CNV insertion 20534489
nsv829243 CNV loss 20364138
nsv834210 CNV loss 17160897
nsv955164 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2D6

Disorders for CYP2D6 Gene

MalaCards: The human disease database

(34) 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 22 46 64
  2. 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 22 46 64
  3. Genetic susceptibility factors for multiple chemical sensitivity revisited. (PMID: 20185366) Berg N.D. … Elberling J. (Int J Hyg Environ Health 2010) 3 22 46 64
  4. Role of the CYP2D6, EPHX1, MPO, and NQO1 genes in the susceptibility to acute lymphoblastic leukemia in Brazilian children. (PMID: 19593802) Silveira V.d.a. .S. … Tone L.G. (Environ. Mol. Mutagen. 2010) 3 22 46 64
  5. Effects of the serotonin 1A, 2A, 2C, 3A, and 3B and serotonin transporter gene polymorphisms on the occurrence of paroxetine discontinuation syndrome. (PMID: 20075642) Murata Y. … Mine K. (J Clin Psychopharmacol 2010) 3 22 46 64

Products for CYP2D6 Gene

  • Cloud-Clone Corp. Antibodies for CYP2D6
  • Cloud-Clone Corp. Proteins for CYP2D6
  • Cloud-Clone Corp Assay Kits for CYP2D6

Sources for CYP2D6 Gene

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