CYP2D6 cytochrome P450 family 2 subfamily D member 6
Gene ID: 1565, updated on 17-Jun-2024Gene type: protein coding
Also known as: CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1
- See all available tests in GTR for this gene
- Go to complete Gene record for CYP2D6
- Go to Variation Viewer for CYP2D6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Amitriptyline response MedGen: CN176769GeneReviews: Not available | See labs |
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. GeneReviews: Not available | |
Clozapine response MedGen: CN077971GeneReviews: Not available | See labs |
Codeine response MedGen: C1837160GeneReviews: Not available | See labs |
Desipramine response MedGen: CN233052GeneReviews: Not available | See labs |
Deutetrabenazine response MedGen: CN258189GeneReviews: Not available | See labs |
Disorder due cytochrome p450 CYP2D6 variant | See labs |
Doxepin response MedGen: CN077978GeneReviews: Not available | See labs |
Eliglustat response MedGen: CN427420GeneReviews: Not available | See labs |
Fluvoxamine response MedGen: CN221254GeneReviews: Not available | See labs |
Imipramine response MedGen: CN221257GeneReviews: Not available | See labs |
Nortriptyline response MedGen: C1837159GeneReviews: Not available | See labs |
Ondansetron response MedGen: CN417142GeneReviews: Not available | See labs |
Paroxetine response MedGen: CN221255GeneReviews: Not available | See labs |
Primaquine response MedGen: CN322745GeneReviews: Not available | not available |
Selective serotonin reuptake inhibitor response MedGen: CN221268GeneReviews: Not available | See labs |
Tamoxifen response MedGen: CN078013GeneReviews: Not available | See labs |
Thioridazine response MedGen: CN078018GeneReviews: Not available | See labs |
Tramadol response MedGen: CN078023GeneReviews: Not available | See labs |
Trimipramine response MedGen: CN221259GeneReviews: Not available | See labs |
Tropisetron response MedGen: CN417143GeneReviews: Not available | See labs |
Genomic context
- Location:
- 22q13.2
- Sequence:
- Chromosome: 22; NC_000022.11 (42126499..42130810, complement)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CYP2D6 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/CYP2D6 genetic mutations
- ClinVarRelated medical variations
- CYP2D6 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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