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    CYP2D6 cytochrome P450 family 2 subfamily D member 6 [ Homo sapiens (human) ]

    Gene ID: 1565, updated on 17-Jun-2024

    Summary

    Official Symbol
    CYP2D6provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily D member 6provided by HGNC
    Primary source
    HGNC:HGNC:2625
    See related
    Ensembl:ENSG00000100197 MIM:124030; AllianceGenome:HGNC:2625
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1
    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]
    Expression
    Biased expression in liver (RPKM 40.1), small intestine (RPKM 14.6) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP2D6 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42126499..42130810, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42605990..42610301, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42522501..42526812, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A6 Neighboring gene NDUFA6 divergent transcript Neighboring gene OLA1 pseudogene 1 Neighboring gene CYP2D6 promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42532244-42532832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42532833-42533420 Neighboring gene cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) Neighboring gene uncharacterized LOC105377203

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Amitriptyline response
    MedGen: CN176769 GeneReviews: Not available
    Compare labs
    Clozapine response
    MedGen: CN077971 GeneReviews: Not available
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    Codeine response
    MedGen: C1837160 GeneReviews: Not available
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    Desipramine response
    MedGen: CN233052 GeneReviews: Not available
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    Deutetrabenazine response
    MedGen: CN258189 GeneReviews: Not available
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    Disorder due cytochrome p450 CYP2D6 variant
    MedGen: C1837154 OMIM: 608902 GeneReviews: Not available
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    Doxepin response
    MedGen: CN077978 GeneReviews: Not available
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    Eliglustat response
    MedGen: CN427420 GeneReviews: Not available
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    Fluvoxamine response
    MedGen: CN221254 GeneReviews: Not available
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    Imipramine response
    MedGen: CN221257 GeneReviews: Not available
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    Nortriptyline response
    MedGen: C1837159 GeneReviews: Not available
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    Ondansetron response
    MedGen: CN417142 GeneReviews: Not available
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    Paroxetine response
    MedGen: CN221255 GeneReviews: Not available
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    Primaquine response
    MedGen: CN322745 GeneReviews: Not available
    Compare labs
    Selective serotonin reuptake inhibitor response
    MedGen: CN221268 GeneReviews: Not available
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    Tamoxifen response
    MedGen: CN078013 GeneReviews: Not available
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    Thioridazine response
    MedGen: CN078018 GeneReviews: Not available
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    Tramadol response
    MedGen: CN078023 GeneReviews: Not available
    Compare labs
    Trimipramine response
    MedGen: CN221259 GeneReviews: Not available
    Compare labs
    Tropisetron response
    MedGen: CN417143 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of cytochrome p450 family proteins CYP2E1, CYP2D6, and CYP2B6 in astrocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC120389, MGC120390

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in alkaloid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in arachidonic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coumarin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in isoquinoline alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in long-chain fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cellular organofluorine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytochrome P450 2D6
    Names
    cholesterol 25-hydroxylase
    cytochrome P450, family 2, subfamily D, polypeptide 6
    cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2
    cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2
    cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2
    cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2
    cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6
    cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1
    cytochrome P450-DB1
    debrisoquine 4-hydroxylase
    flavoprotein-linked monooxygenase
    microsomal monooxygenase
    nonfunctional cytochrome P450 2D6
    xenobiotic monooxygenase
    NP_000097.3
    NP_001020332.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008376.4 RefSeqGene

      Range
      5001..9312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_303

    mRNA and Protein(s)

    1. NM_000106.6NP_000097.3  cytochrome P450 2D6 isoform 1

      See identical proteins and their annotated locations for NP_000097.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AW297258, BC075023
      Consensus CDS
      CCDS46721.1
      UniProtKB/Swiss-Prot
      P10635, Q16752, Q2XND6, Q2XND7, Q2XNE0, Q6B012, Q6NXU8
      UniProtKB/TrEMBL
      C1ID52, D0U5L8, D5KN10, D5KN50, D5KN64, D5KNB5, D5KND2
      Related
      ENSP00000496150.1, ENST00000645361.2
      Conserved Domains (1) summary
      pfam00067
      Location:58493
      p450; Cytochrome P450
    2. NM_001025161.3NP_001020332.2  cytochrome P450 2D6 isoform 2

      See identical proteins and their annotated locations for NP_001020332.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1, which results in a shorter isoform (2).
      Source sequence(s)
      AY663390, BC066877, BC075023, CB124853
      Consensus CDS
      CCDS33657.1
      UniProtKB/TrEMBL
      A0A0G2JLK7
      Related
      ENSP00000351927.4, ENST00000359033.4
      Conserved Domains (1) summary
      pfam00067
      Location:58442
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42126499..42130810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646208.1 Reference GRCh38.p14 PATCHES

      Range
      12065..16376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040931.1 Reference GRCh38.p14 PATCHES

      Range
      20088..24399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015148968.1 Reference GRCh38.p14 PATCHES

      Range
      4240..8551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_004504305.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      48826..53137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187682.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      48840..53151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42605990..42610301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)