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
External Ids for CYP2D6 Gene
- HGNC: 2625
- Entrez Gene: 1565
- Ensembl: ENSG00000100197
- OMIM: 124030
- UniProtKB: P10635
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
-
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 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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CYP2D6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CYP2D6 gene promoter:
Regulatory Element Products
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:
-
- 22q13.2 by Ensembl
- 22q13.2 by Entrez Gene
- 22q13.2 by HGNC
CYP2D6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for CYP2D6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for CYP2D6 (CYP2D6)
- Novus Biologicals Antibodies for CYP2D6
-
Abcam antibodies for CYP2D6
-
Cloud-Clone Corp. Antibodies for CYP2D6
- Invitrogen Antibodies for CYP2D6
- antibodies-online Antibodies for CYP2D6: See all 145
- GeneTex CYP2D6 antibody for CYP2D6
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYP2D6
Protein Products
-
OriGene Purified Proteins for CYP2D6
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP2D6
- Origene Custom Protein Services for CYP2D6
- ProSpec Recombinant Proteins for CYP2D6
-
Cloud-Clone Corp. Proteins for CYP2D6
- antibodies-online Proteins for CYP2D6: See all 24
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CYP2D6
-
Abcam proteins for 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:
-
- Nonfunctional cytochrome P450 family 2 subfamily D polypeptide 6 (A9QKR9_HUMAN)
- Cytochrome P450, family 2, subfamily D, polypeptide 6, isoform CRA_a (C1ID52_HUMAN)
- Cytochrome P450 2D6 (C1ID54_HUMAN)
- Nonfunctional cytochrom P450 family 2 subfamily D polypeptide 6 (C4MDQ5_HUMAN)
- Debrisoquine 4-hydroxylase (CP2D6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P10635- Family:
-
- Belongs to the cytochrome P450 family.
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
| 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 | -- |
Phenotypes for CYP2D6 Gene
- GenomeRNAi human phenotypes for CYP2D6:
Animal Model Products
-
Taconic Biosciences Mouse Models for CYP2D6
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP2D6
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP2D6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP2D6 gene
- Search ViGene Biosciences for CYP2D6
CRISPR Products
-
OriGene CRISPR knockouts for CYP2D6
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2D6
- GenScript: Design CRISPR guide RNA sequences for CYP2D6
miRNA for CYP2D6 Gene
- miRTarBase miRNAs that target CYP2D6
miRNA Products
- Search ViGene Biosciences for CYP2D6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP2D6
- Browse OriGene Inhibitory RNA Products For CYP2D6
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP2D6 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP2D6
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CYP2D6
- VectorBuilder custom plasmid, inducible vectors for CYP2D6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP2D6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CYP2D6
-
ViGene Biosciences adenoviral particle packaged cDNA for CYP2D6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP2D6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP2D6 gene
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 3 |
| extracellular | 2 |
| nucleus | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| 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 | -- |
Pathways & Interactions for CYP2D6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.39
|
.01
.01
|
| 2 | Gefitinib Pathway, Pharmacokinetics | ||
| 3 | Drug metabolism - cytochrome P450 | ||
| 4 | Paroxetine Pathway, Pharmacokinetics | ||
| 5 | Acetaminophen Pathway (therapeutic doses), Pharmacokinetics | ||
Pathways by source for CYP2D6 Gene
1 Cell Signaling Technology pathway for CYP2D6 Gene
6 BioSystems pathways for CYP2D6 Gene
8 Reactome pathways for CYP2D6 Gene
23 PharmGKB pathways for CYP2D6 Gene
4 KEGG pathways for CYP2D6 Gene
4 GeneGo (Thomson Reuters) pathways for CYP2D6 Gene
Interacting Proteins 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 |
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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 | ||||
| Paraxanthine |
|
611-59-6 | ||||
| 11,12,15-THETA |
|
|
||||
| 11,12-Epoxyeicosatrienoic acid |
|
81276-02-0 |
|
|||
| 11,14,15-THETA |
|
|
(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 |
Transcripts for CYP2D6 Gene
mRNA/cDNA for CYP2D6 Gene
- (6) 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
CRISPR Products
-
OriGene CRISPR knockouts for CYP2D6
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2D6
- GenScript: Design CRISPR guide RNA sequences for CYP2D6
miRNA Products
- Search ViGene Biosciences for CYP2D6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP2D6
- Browse OriGene Inhibitory RNA Products For CYP2D6
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP2D6 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP2D6
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CYP2D6
- VectorBuilder custom plasmid, inducible vectors for CYP2D6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP2D6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: |
Expression for CYP2D6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Mature Hepatocytes Liver Lobule
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
-
Epithelial Cells
- Amniotic Epithelial Cells Amniotic Membrane
mRNA differential expression in normal tissues according to GTEx for CYP2D6 Gene
This gene is overexpressed in Liver (x40.6).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CYP2D6 Gene:
CYP2D6SOURCE GeneReport for Unigene cluster for CYP2D6 Gene:
Hs.333497Evidence 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for CYP2D6
-
OriGene qPCR primer pairs for CYP2D6
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP2D6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MGC127055 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Cyp2d3 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp2d22 35 |
|
OneToMany | |
| Cyp2d26 35 |
|
OneToMany | |||
| Cyp2d40 35 |
|
OneToMany | |||
| Cyp2d10 35 |
|
OneToMany | |||
| Cyp2d9 35 |
|
OneToMany | |||
| Cyp2d34 35 |
|
OneToMany | |||
| Cyp2d11 35 |
|
OneToMany | |||
| Cyp2d12 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | CYP2D6 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2D6 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP2D6 34 |
|
||
| GGA.10540 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | CYP2D6 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyp2d6 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp2aa12 35 |
|
ManyToMany | |
| cyp2aa11 35 |
|
ManyToMany | |||
| cyp2aa7 35 |
|
ManyToMany | |||
| cyp2aa2 35 |
|
ManyToMany | |||
| cyp2aa1 35 |
|
ManyToMany | |||
| cyp2aa3 35 |
|
ManyToMany | |||
| cyp2aa4 35 |
|
ManyToMany | |||
| cyp2aa8 35 |
|
ManyToMany | |||
| cyp2aa9 35 |
|
ManyToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp18a1 36 |
|
|
|
| Cyp305a1 36 |
|
|
|||
| Cyp303a1 36 |
|
|
|||
| Cyp307a1 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | K09A11.4 36 |
|
|
|
| B0304.3 36 |
|
|
|||
| C50H11.15 36 |
|
|
|||
| K09A11.3 36 |
|
|
|||
| Y49C4A.9 36 |
|
|
|||
| F41B5.3 36 |
|
|
|||
| F41B5.4 36 |
|
|
|||
| F44C8.1 36 |
|
|
|||
| Y5H2B.6 36 |
|
|
|||
| C12D5.7 36 |
|
|
|||
| C45H4.2 36 |
|
|
|||
| K09A11.2 36 |
|
|
|||
| F41B5.7 36 |
|
|
|||
| C34B7.3 36 |
|
|
|||
| F42A9.5 36 |
|
|
- 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)
Paralogs for CYP2D6 Gene
(32) SIMAP similar genes for CYP2D6 Gene using alignment to 39 proteins:
- CP2D6_HUMAN
- A9QKR9_HUMAN
- C1ID52_HUMAN
- C1ID54_HUMAN
- C4MDQ5_HUMAN
- D0U5L8_HUMAN
- D3IP03_HUMAN
- D3IP04_HUMAN
- D3IP05_HUMAN
- D5KMQ2_HUMAN
- D5KMR1_HUMAN
- D5KMS0_HUMAN
- D5KMU5_HUMAN
- D5KMU6_HUMAN
- D5KMZ1_HUMAN
- D5KN01_HUMAN
- D5KN10_HUMAN
- D5KN50_HUMAN
- D5KN61_HUMAN
- D5KN64_HUMAN
- D5KNB5_HUMAN
- D5KND2_HUMAN
- E7ENE7_HUMAN
- G9CGD2_HUMAN
- H7BY38_HUMAN
- I1VC92_HUMAN
- I1VC93_HUMAN
- Q007T8_HUMAN
- Q007T9_HUMAN
- Q2XND0_HUMAN
- Q2XND2_HUMAN
- Q2XND3_HUMAN
- Q2XND8_HUMAN
- Q38LF9_HUMAN
- Q38LG0_HUMAN
- Q38LG2_HUMAN
- Q3KPF3_HUMAN
- Q6ICD8_HUMAN
- Q6NWU0_HUMAN
Pseudogenes.org Pseudogenes for CYP2D6 Gene
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).
| 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 |
| 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 |
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
Disorders for CYP2D6 Gene
(34) MalaCards diseases for CYP2D6 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| debrisoquine sensitivity |
|
|
| cyp2d6-related altered drug metabolism |
|
|
| codeine toxicity |
|
|
| resistance to tamoxifene |
|
|
| antidepressant or antipsychotic toxicity or dose selection |
|
|
Search CYP2D6 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot for CYP2D6 Gene
Publications for CYP2D6 Gene
- 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
- 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
- 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
- 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
- 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
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