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

    Gene ID: 1565, updated on 16-Aug-2016
    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 HPRD:00487; MIM:124030; Vega:OTTHUMG00000150918
    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]
    Orthologs
    Location:
    22q13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (42125531..42130881, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42522501..42526883, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NDUFA6 antisense RNA 1 (head to head) Neighboring gene Obg-like ATPase 1 pseudogene 1 Neighboring gene uncharacterized LOC105373047 Neighboring gene uncharacterized LOC102723722 Neighboring gene cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) Neighboring gene uncharacterized LOC105377203

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Amitriptyline response
    MedGen: CN176769 GeneReviews: Not available
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    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
    not available
    Disorder due cytochrome p450 CYP2D6 variant
    MedGen: C1827409 OMIM: 608902 GeneReviews: Not available
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    Doxepin response
    MedGen: CN077978 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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    Paroxetine response
    MedGen: CN221255 GeneReviews: Not available
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    Selective serotonin reuptake inhibitor (SSRI) response
    MedGen: CN221268 GeneReviews: Not available
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    Tamoxifen response
    MedGen: CN078013 GeneReviews: Not available
    Compare labs
    Tramadol response
    MedGen: CN078023 GeneReviews: Not available
    Compare labs
    Trimipramine response
    MedGen: CN221259 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC120389, MGC120390

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arachidonic acid epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    aromatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen TAS
    Traceable Author Statement
    more info
     
    oxygen binding TAS
    Traceable Author Statement
    more info
     
    steroid hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    alkaloid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    arachidonic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    coumarin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heterocycle metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    isoquinoline alkaloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cellular organofluorine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_008376.3 RefSeqGene

      Range
      4111..8493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000106.5NP_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)
      AY663390, BC075023, CB124853
      Consensus CDS
      CCDS46721.1
      UniProtKB/Swiss-Prot
      P10635
      UniProtKB/TrEMBL
      C1ID52, Q5Y7H2
      Related
      ENSP00000353820, OTTHUMP00000198705, ENST00000360608, OTTHUMT00000320525
      Conserved Domains (1) summary
      pfam00067
      Location:58493
      p450; Cytochrome P450
    2. NM_001025161.2NP_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/Swiss-Prot
      P10635
      UniProtKB/TrEMBL
      Q5Y7H2
      Related
      ENSP00000351927, OTTHUMP00000198706, ENST00000359033, OTTHUMT00000320526
      Conserved Domains (1) summary
      pfam00067
      Location:58442
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      42125531..42130881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529970.2XP_011528272.1  

      Conserved Domains (1) summary
      pfam00067
      Location:58425
      p450; Cytochrome P450
    2. XM_011529966.2XP_011528268.1  

      See identical proteins and their annotated locations for XP_011528268.1

      Conserved Domains (1) summary
      pfam00067
      Location:58476
      p450; Cytochrome P450
    3. XM_011529968.2XP_011528270.1  

      Conserved Domains (1) summary
      pfam00067
      Location:58476
      p450; Cytochrome P450
    4. XM_011529972.2XP_011528274.1  

      Conserved Domains (1) summary
      cl12078
      Location:58282
      p450; Cytochrome P450

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015148968.1 Reference GRCh38.p7 PATCHES

      Range
      4240..8622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_009646208.1 Reference GRCh38.p7 PATCHES

      Range
      12065..16447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_014040931.1 Reference GRCh38.p7 PATCHES

      Range
      20088..24470 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NW_004504305.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      48826..53208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_187682.1 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      48840..53222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      42482242..42486624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)