CYP2D6 Gene
protein-coding GIFtS : 71
GCID: GC22 M042522
cytochrome P450, family 2, subfamily D, polypeptide 6 (Previous names: cytochrome P450, subfamily IID (debrisoquine, sparteine,... ) (Previous symbols: CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP )
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Aliasesfor CYP2D6 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Cytochrome P450, Family 2, Subfamily D, Polypeptide 6 1 2 Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolising),Polypeptide 8 Pseudogene 21 2 CYP2DL11 2 3 Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing),Polypeptide 61 2 CPD61 2 5 Cytochrome P450-DB12 3 CYP2D1 2 Debrisoquine 4-Hydroxylase2 3 CYP2D7AP1 2 CYPIID62 3 CYP2D7BP1 2 EC 1.14.14.13 8 CYP2D7P21 2 P450DB12 5 CYP2D8P21 2 Cytochrome P450 2D62 P450-DB11 2 Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc.,-Metabolizing)-Like 12 P450C2D1 2 Flavoprotein-Linked Monooxygenase2 Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 21 2 Microsomal Monooxygenase2 Cytochrome P450, Family 2, Subfamily D, Polypeptide 8 Pseudogene 21 2 Xenobiotic Monooxygenase2 Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc., -Metabolising),Polypeptide 7 Pseudogene 21 2
Export aliases for CYP2D6 gene to outside databases Previous GC identifers: GC22U990011 GC22M039139 GC22M040766 GC22M040768 GC22M040769 GC22M040848 GC22M040849 GC22M040852 GC22M025488
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Summariesfor CYP2D6 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for CYP2D6 : 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) UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 Function : Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved inthe metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants Gene Wiki entry for CYP2D6 PharmGKB "VIP " summary for
CYP2D6
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Genomic Viewsfor CYP2D6 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000022.10 NC_018933.1 NT_011520.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CYP2D6 gene promoter: PPAR-gamma1 PPAR-gamma2 NF-kappaB1 Other transcription factors Search SABiosciences Chromatin IP Primers for CYP2D6 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CYP2D6
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.1 CYP2D6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 22 GeneLoc Exon Structure
GeneLoc location for GC22M042522: view genomic region
(about GC identifiers )
Start:
42,522,501 bp from pter
End:
42,526,908 bp from pter
Size:
4,408 bases
Orientation:
minus strand
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Proteinsfor CYP2D6 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 (See
protein sequence )Recommended Name: Cytochrome P450 2D6 Size : 497 amino acids; 55769 Da
Cofactor : Heme group
Subcellular location : Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheralmembrane protein
4 PDB 3D structures from and Proteopedia for CYP2D6 :2F9Q (3D)
  3QM4 (3D)
  3TBG (3D)
  3TDA (3D)
 
Secondary accessions : Q16752 Q2XND6 Q2XND7 Q2XNE0 Q6B012 Q6NXU8Alternative splicing : 2 isoforms : P10635-1 P10635-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CYP2D6: NX_P10635 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P10635 4/20 DME Specific Peptides for CYP2D6 (P10635 ) (see all 20 )CYP2D6 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_000097.3 NP_001020332.2 ENSEMBL proteins: ENSP00000353241 ENSP00000353820 ENSP00000351927 ENSP00000374620 Reactome Protein details: P10635 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
CYP2D6 for ontologies About GeneDecksing CYP2D6 Antibody Products: Assay Products for CYP2D6:
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Protein
Domains / Familiesfor CYP2D6 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CYP2D6 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P10635 ProtoNet protein and cluster: P10635
2 Blocks protein families : IPB002401 E-class P450 group I signature IPB008069 CYP2D P450 family signature UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 Similarity : Belongs to the cytochrome P450 family
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Functionfor CYP2D6 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 Function : Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved inthe metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants Catalytic activity : RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)OInduction : By pregnancyEnzyme Number (IUBMB): EC 1.14.14.1 1 2
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CYP2D6 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CYP2D6 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): CYP2D6 (NM_000106 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP2D6 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CYP2D6
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2D6
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11 ): About this table
CYP2D6 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for CYP2D6 :
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Pathways & Interactionsfor CYP2D6 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/16 super-pathways (see all 16 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Tamoxifen metabolism 2 Acetaminophen Pathway, Pharmacokinetics 3 Doxepin Pathway, Pharmacokinetics 4 Cytochrome P450 - arranged by substrate type 5 Xenobiotics
Pathway sources See GeneCards unified pathways Show all pathways 4 EMD Millipore Pathways for CYP2D6 4 GeneGo (Thomson Reuters) Pathways for CYP2D6 5 BioSystems Pathways for CYP2D6 5/6
Reactome Pathways for CYP2D6 (see all 6 )5/20 PharmGKB Pathways for CYP2D6 (see all 20 )1
Kegg Pathway (Kegg details for CYP2D6) :
CYP2D6 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP2D6 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/35 Interacting proteins for CYP2D6 (P10635 3 ENSP00000353820 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 35 )About this table Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18 ): About this table
CYP2D6 for ontologies About GeneDecksing
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Drugs & Compoundsfor CYP2D6 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
CYP2D6 for compounds About GeneDecksing Browse Tocris compounds for CYP2D6 10/70 HMDB Compounds for CYP2D6 (see all 70 ) About this table Compound Synonyms
CAS
# PubMed Ids 10-HETE 10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2 ) 167697-52-1 -- 11,12,15-THETA 11,12,15-Trihydroxyicosatrienoic acid (see all 5 ) -- -- 11,12-Epoxyeicosatrienoic acid 10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15 ) 81276-02-0 -- 11,14,15-THETA (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8 ) -- -- 11H-14,15-EETA 14,15-Ep-11-HETrE (see all 11 ) 219535-29-2 -- 11beta-Hydroxytestosterone 11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9 -- 12,13-EpOME Vernolic acid (see all 12 ) -- -- 13-HETE 13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2 ) 151910-72-4 -- 14,15-Epoxy-5,8,11-eicosatrienoic acid (5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11 ) 81276-03-1 -- 15(S)-HPETE (5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8 ) 70981-96-3 --
10/289 DrugBank Compounds for CYP2D6 (see all 289 ) About this table 10/156 Novoseek chemical compound relationships for CYP2D6 gene (see all 156 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
debrisoquine
96.9
338
10752638 (5), 11723233 (5), 9316857 (4), 1978565 (3) (see all 99 )
bufuralol
93.4
56
15183128 (3), 16563352 (3), 11266079 (3), 12167561 (2) (see all 36 )
sparteine
91.2
56
8351162 (3), 1531950 (2), 10634134 (2), 11549206 (2) (see all 41 )
quinidine
88.3
116
10702886 (6), 7575645 (5), 7593709 (5), 8100167 (3) (see all 64 )
dextrorphan
84.7
40
18543297 (5), 7593709 (3), 10942192 (3), 10774635 (2) (see all 15 )
3-methoxymorphinan
83.7
8
8873685 (2), 10942192 (2), 7826826 (1), 10774635 (1)
furafylline
81.5
1
9431831 (1)
mephenytoin
81.3
28
10424320 (2), 8737964 (2), 10774635 (2), 18979093 (1) (see all 19 )
bunitrolol
80.8
10
7663534 (3), 15618721 (1), 7951142 (1), 9914647 (1) (see all 5 )
1'-hydroxybufuralol
78
1
12167561 (1)
10/48 PharmGKB related drug/compound annotations for CYP2D6 gene (see all 48 )About this table Search CenterWatch for drugs/clinical trials and news about CYP2D6 / CP2D6
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Transcriptsfor CYP2D6 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for CYP2D6 gene (2 alternative transcripts): NM_000106.5 NM_001025161.2 Unigene Clusters for CYP2D6:
Cytochrome P450, family 2, subfamily D, polypeptide 6 Hs.333497 [show with all ESTs ] , Hs.648256 [show with all ESTs ] Unigene Representative Sequences: AY220845 , AB209492 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000360124 (uc010gyu.3 ) ENST00000360608 (uc003bce.3 uc003bcf.3 )ENST00000488442 ENST00000359033 ENST00000389970 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CYP2D6 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CYP2D6 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): CYP2D6 (NM_000106 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP2D6 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CYP2D6
Additional cDNA sequence: AB209492.1 AK308211.1 AK309600.1 AY663390.1 BC066877.1 BC067432.1 BC075023.2 BC075024.2 BC106757.1 BC106758.1 BC126857.1 BC126858.1 CR456430.1 M20403.1 M24499.1 X08006.1 X16865.1
19 DOTS entries : DT.456039 DT.75148866
DT.101983084 DT.100861542 DT.91734821 DT.120667070 DT.120667088 DT.95345407 DT.99937608 DT.97806204 DT.100797188 DT.120667041 DT.91742565 DT.100797187 DT.40200615 DT.100797190 DT.100797191 DT.120667093 DT.91690659 24/107 AceView cDNA sequences (see all 107 ):
AI581683 AV645915 CB137789 BC067432 NM_000106 CB144729 BC066877 CB134922 CR456430 CB122244 BC075023 CB116939 CK032846 BX422591 AV684718 BV188663 AV651120 CK130222 CB124853 BX422592 AV689088 M24499 BX430832 CK130224 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CYP2D6 (see all 13 ) About this scheme 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 :                     -                                
ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 SP1 :             SP2 :             SP3 :             SP4 :             SP5 :            
ECgene alternative splicing isoforms for CYP2D6
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Expression for CYP2D6 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section CYP2D6 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image CYP2D6 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Liver Liver Lobule Mature Hepatocytes Liver Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See CYP2D6 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CYP2D6 SOURCE GeneReport for Unigene clusters: Hs.333497 Hs.648256 SABiosciences Expression via Pathway-Focused PCR Arrays including CYP2D6 (see all 6 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CYP2D6Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CYP2D6 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CYP2D6 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CYP2D6 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2D6
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Orthologsfor CYP2D6 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for CYP2D6 gene from 4/13 species (see all 13 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
F1NJG4_CHICK6
Uncharacterized protein
54(a)
1 ↔ 1
1(51291826-51300399)
lizard (Anolis carolinensis)
Reptilia
CYP2D66
--
48(a)
1 ↔ 1
5(27228365-27244663)
fruit fly (Drosophila melanogaster)
Insecta
Cyp18a13
steroid biosynthesis cytochrome P450
34(a) (best of 4)
 
17D1 --
worm (Caenorhabditis elegans)
Secernentea
K09A11.43
cytochrome p450
36(a) (best of 15)
 
X(13307102-13309423) --
ENSEMBL Gene Tree for CYP2D6 (if available)TreeFam Gene Tree for CYP2D6 (if available)
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Paralogsfor CYP2D6 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CYP2D6 gene CYP2W1 2 CYP2C8 2 CYP2A6 2 CYP2F1 2 CYP2C19 2 CYP2B6 2 CYP2A7 2 CYP2R1 2 CYP2U1 2 CYP2J2 2 CYP2E1 2 CYP2S1 2 CYP2C9 2 CYP2B7P1 2 CYP2A13 2 CYP2C18 2 18/32 SIMAP similar genes for CYP2D6 using alignment to 39 protein entries: CP2D6_HUMAN (see all proteins )
(see all similar genes ):CYP2D7P1 CYP2G1P CYP2R1 CYP2J2 CYP2U1 CYP2B6 CYP2A6 CYP2A13 CYP2A7 CYP2C9 CYP2E1 CYP 2C CYP2B CYP2C19 CYP2B7 CYP2A6V2 CYP2S1 CYP2C8
CYP2D6 for paralogs About GeneDecksing 2 Pseudogenes.org Pseudogenes for CYP2D6 PGOHUM00000259332 PGOHUM00000237892
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Genomic Variantsfor CYP2D6 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 Polymorphism : Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. TheCYP2D6 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 Polymorphism : Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J,allele CYP2D6*17 as CYP2D6Z Polymorphism : Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486)are functional
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 22 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CYP2D6 (42522501 - 42526908 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 8 variations for CYP2D6 8 CNVs : 36034 44072 62008 73828 7350 22824 73826 73827 Human Gene Mutation Database (HGMD) : CYP2D6 Locus Specific Mutation Databases (LSDB): CYP2D6 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CYP2D6
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Disorders
/ Diseasesfor CYP2D6 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
CYP2D6 for disorders About GeneDecksing OMIM gene information: 124030 OMIM disorders : 608902 20/152 diseases for CYP2D6 (see all 152 ): About MalaCards open-angle glaucoma attention deficit hyperactivity disorder primary open angle glaucoma sudden infant death syndrome drug-induced hepatitis neuroleptic malignant syndrome debrisoquine sensitivity codeine sensitivity age related macular degeneration patent ductus arteriosus lichen planus laryngeal squamous cell carcinoma multiple chemical sensitivity systolic heart failure oral lichen planus growth hormone deficiency multiple system atrophy cholesterol non-hodgkin lymphoma squamous cell carcinoma 10 diseases from the University of Copenhagen DISEASES database for CYP2D6 :Autoimmune hepatitis Schizophrenia Breast cancer Parkinson's disease Neuroleptic malignant syndrome Pain agnosia Liver disease Lung cancer Schizoaffective disorder Hepatitis C 10/71 Novoseek disease relationships for CYP2D6 gene (see all 71 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
hepatitis autoimmune
71.3
35
16037945 (2), 9719237 (2), 15747502 (2), 10540193 (2) (see all 23 )
neuroleptic malignant syndrome
47
13
9323326 (4), 9892857 (1), 11204351 (1), 16048458 (1) (see all 6 )
parkinson disease
44
57
9189044 (4), 8627546 (2), 18300942 (2), 20364044 (2) (see all 33 )
genetic susceptibility
42
4
18300942 (1), 7581482 (1), 20225176 (1), 8035747 (1)
hepatitis c chronic
35.6
11
9672171 (2), 10772926 (2), 8905121 (1), 9328334 (1) (see all 9 )
cancer recurrence
34.8
5
20439629 (2), 19690182 (1), 19244106 (1)
schizophrenia
31.3
57
18034624 (5), 16478753 (4), 18520596 (3), 11702057 (3) (see all 22 )
lewy body disease
30.5
5
9316701 (1), 10534269 (1), 16337409 (1), 10071712 (1)
breast cancer
26.4
59
20439629 (4), 18445827 (3), 18407954 (3), 18794105 (3) (see all 33 )
parkinsonism
25.6
7
9286632 (1), 8937349 (1), 9109653 (1), 8723226 (1) (see all 5 )
Genatlas disease: CYP2D6 debrisoquine sensitivity (poor metabolizer,CYP2D6 mutant) including neuroleptic malignant syndrome,putative susceptibility gene for leukemia Genetic Association Database (GAD): CYP2D6 Human Genome Epidemiology (HuGE) Navigator: CYP2D6 (571 documents) Export disorders for CYP2D6 gene to outside databases
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Publicationsfor CYP2D6 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for CYP2D6 gene, integrated from 9 sources (see all 1647 ): (articles sorted by number of sources associating them with CYP2D6) Utopia : connect your pdf to the dynamic world of online information
A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity. (PubMed id 8971426) 1 , 2 , 4, 9 Masimirembwa C....Ingelman-Sundberg M. (1996) 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. (PubMed id 7845481) 1 , 2 , 4, 9 Evert B.... Eichelbaum M. (1994) Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers. (PubMed id 12360109) 1 , 4, 7 Kirchheiner J....Brockmoller J. (2002) Polymorphism of human cytochrome P450 2D6 and its cli nical significance: part II. (PubMed id 19902987) 1 , 7, 9 Zhou S.F. (2009) Relationship between haloperidol plasma concentration, debrisoquine metabolic ratio, CYP2D6 and CYP2C9 genotypes in psychiatric patients. (PubMed id 15048614) 1 , 4, 9 LLerena A....Dorado P. (2004) Impact of CYP2D6 genotype on steady-state serum conce ntrations of risperidone and 9-hydroxyrisperidone in patients using long-acting injectable risperidone. (PubMed id 19910717) 1 , 7, 9 Hendset M....Hermann M. (2009) CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. (PubMed id 15632378) 1 , 4, 9 Jin Y....Flockhart D.A. (2005) Polymorphisms of CYP2C19 and CYP2D6 in Israeli ethnic groups. (PubMed id 15651900) 1 , 4, 9 Luo H.R....Wan Y.J. (2004) Genetic polymorphism of CYP2D6 and CYP2C19 in east- and southern African populations including psychiatric patients. (PubMed id 11372584) 1 , 4, 9 Dandara C....Hasler J.A. (2001) G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese. (PubMed id 10064570) 1 , 2 , 9 Wang S.L.... Huang J.D. (1999)
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External Searches for CYP2D6 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CYP2D6 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing CYP2D6 gene
(According to HUGE )
About This Section --
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Specialized Databases showing CYP2D6 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for CYP2D6 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for CYP2D6 Genetics and Cytogenetics in Oncology and Haematology Cytochrome P450 Allele Nomenclature Committee http://www.cypalleles.ki.se/cyp2d6.htm Wikipedia http://en.wikipedia.org/wiki/CYP2D6
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About This Section Patent Information for CYP2D6 gene: Search GeneIP for patents involving CYP2D6 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CYP2D6 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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variant library, vector shuttling OriGene Custom Antibody Services for CYP2D6 OriGene Custom Protein Services for CYP2D6 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CYP2D6 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CYP2D6 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CYP2D6 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CYP2D6 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CYP2D6 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CYP2D6
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Recombinant Protein for CYP2D6
CYP2D6 Proteins, Antibodies, CLIAs, and ELISAs
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CYP2D6
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