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

Gene ID: 1565, updated on 9-Sep-2017
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; 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:
22q13.2
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

  • 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 Jun 15 11:32:44 2016

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
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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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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
not available
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
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Thioridazine response
MedGen: CN078018 GeneReviews: Not available
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Tramadol response
MedGen: CN078023 GeneReviews: Not available
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Trimipramine response
MedGen: CN221259 GeneReviews: Not available
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Tropisetron response
MedGen: CN417143 GeneReviews: Not available
not available

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
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
XP_011528268.1
XP_011528270.1
XP_011528272.1
XP_011528274.1

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
    ENSP00000353820.5, OTTHUMP00000198705, ENST00000360608.9, 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
    ENSP00000351927.4, OTTHUMP00000198706, ENST00000359033.4, OTTHUMT00000320526
    Conserved Domains (1) summary
    pfam00067
    Location:58442
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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  cytochrome P450 2D6 isoform X3

    Conserved Domains (1) summary
    pfam00067
    Location:58425
    p450; Cytochrome P450
  2. XM_011529966.2XP_011528268.1  cytochrome P450 2D6 isoform X1

    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  cytochrome P450 2D6 isoform X2

    Conserved Domains (1) summary
    pfam00067
    Location:58476
    p450; Cytochrome P450
  4. XM_011529972.2XP_011528274.1  cytochrome P450 2D6 isoform X4

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

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 PATCHES

Genomic

  1. NW_015148968.1 Reference GRCh38.p7 PATCHES

    Range
    4240..8622 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)
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