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

Gene ID: 1565, updated on 26-Aug-2014
Official Symbol
CYP2D6provided by HGNC
Official Full Name
cytochrome P450, family 2, subfamily D, polypeptide 6provided by HGNC
Primary source
HGNC:2625
Locus tag
RP4-669P10.2
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]
See CYP2D6 in Epigenomics, MapViewer
Location:
22q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 22 NC_000022.11 (42126499..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 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa Neighboring gene NDUFA6 antisense RNA 1 (head to head) Neighboring gene Obg-like ATPase 1 pseudogene 1 Neighboring gene uncharacterized LOC102723722 Neighboring gene cytochrome P450, family 2, subfamily D, polypeptide 7, pseudogene Neighboring gene cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 
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 
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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
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 
Preferred Names
cytochrome P450 2D6
Names
cytochrome P450 2D6
cytochrome P450-DB1
microsomal monooxygenase
xenobiotic monooxygenase
debrisoquine 4-hydroxylase
flavoprotein-linked monooxygenase
cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2
cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2
cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1
cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6
cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2
cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2
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 

    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 proteins identical to 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/TrEMBL
    C1ID52
    UniProtKB/Swiss-Prot
    P10635
    UniProtKB/TrEMBL
    Q5Y7H2
    Related
    ENSP00000353820, OTTHUMP00000198705, ENST00000360608, OTTHUMT00000320525
    Conserved Domains (1) summary
    pfam00067
    Location:58493
    Blast Score: 1143
    p450; Cytochrome P450
  2. NM_001025161.2NP_001020332.2  cytochrome P450 2D6 isoform 2

    See proteins identical to 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
    Blast Score: 973
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NW_004504305.1 

    Range
    48826..53233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006726317.1XP_006726380.1  

    See proteins identical to XP_006726380.1

    Conserved Domains (1) summary
    pfam00067
    Location:58494
    Blast Score: 1148
    p450; Cytochrome P450
  2. XM_005278354.2XP_005278411.1  

    See proteins identical to XP_005278411.1

    Conserved Domains (1) summary
    pfam00067
    Location:77393
    Blast Score: 903
    p450; Cytochrome P450

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

    Range
    42126499..42130881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724157.1XP_006724220.1  

    Conserved Domains (1) summary
    pfam00067
    Location:2434
    Blast Score: 1138
    p450; Cytochrome P450

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    25488519..25492901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

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