CYP2D7 Gene (Protein Coding)

Cytochrome P450 Family 2 Subfamily D Member 7 (Gene/Pseudogene)

GC22M045417
GIFtS:
21
This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele ... See more...

Aliases for CYP2D7 Gene

Aliases for CYP2D7 Gene

  • Cytochrome P450 Family 2 Subfamily D Member 7 (Gene/Pseudogene) 2 3 5
  • Putative Cytochrome P450 2D7 3 3 4
  • Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing) Cluster 2 3
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 1 2 3
  • Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 7 Pseudogene 1 3
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 (Gene/Pseudogene) 2
  • Nonfunctional Cytochrome P450 Family 2 Subfamily D Polypeptide 6 3
  • Cytochrome P4502D6 3
  • EC 1.14.14.1 4
  • CYP2D7AP 3
  • CYP2D7P1 3
  • RNA40057 3
  • CYP2D7P 3
  • P450C2D 3
  • P450DB1 3
  • CYP2D6 3
  • CYP2D@ 3
  • CYP2D7 5
  • CYP2D 3

External Ids for CYP2D7 Gene

Previous HGNC Symbols for CYP2D7 Gene

  • CYP2D
  • CYP2D@
  • CYP2D7P1
  • CYP2D7P

Previous GeneCards Identifiers for CYP2D7 Gene

  • GC22M042140

Summaries for CYP2D7 Gene

Entrez Gene Summary for CYP2D7 Gene

  • This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017]

GeneCards Summary for CYP2D7 Gene

CYP2D7 (Cytochrome P450 Family 2 Subfamily D Member 7 (Gene/Pseudogene)) is a Protein Coding gene. Among its related pathways are Serotonergic synapse and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2D6.

UniProtKB/Swiss-Prot Summary for CYP2D7 Gene

  • May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503).

Additional gene information for CYP2D7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP2D7 Gene

Genomics for CYP2D7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CYP2D7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J042150 Enhancer 0.2 Ensembl 600.7 -1.0 -1046 0.2 CYP2D7 LOC105377203 SMDT1 TCF20 CYP2D8P
GH22J042148 Enhancer 0.2 Ensembl 600.7 +0.3 254 1.6 CYP2D7 LOC105377203 CYP2D6 TCF20 CSDC2 PHETA2 XRCC6 SNU13 CYP2D8P NONHSAG034047.2
GH22J042443 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -294.9 -294860 2 SP1 CTCF ZNF629 ZNF512 LEF1 IKZF1 RFX5 ZNF692 POLR2A BACH1 TCF20 PHF5A RPL5P34 RN7SKP80 ENSG00000232710 CYP2D7 CYP2D6 POLDIP3 NFAM1 SMDT1
GH22J041300 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.7 +846.6 846587 4.5 SP1 GATAD2A CTCF PRDM10 TFE3 RFX1 KDM1A POLR2A RCOR2 BACH1 RANGAP1 ZC3H7B L3MBTL2-AS1 MEI1 TEF CYP2D7 SGSM3 HE856184
GH22J042282 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.4 -133.6 -133612 1.7 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 ZIC2 POLR2A SP1 ZNF341 SMDT1 NFAM1 CYP2D7 ENSG00000232710 CYP2D6 TCF20 NDUFA6 NDUFA6-DT lnc-NFAM1-4 lnc-SMDT1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP2D7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP2D7

Genomic Locations for CYP2D7 Gene

Genomic Locations for CYP2D7 Gene
chr22:42,139,576-42,149,455
(GRCh38/hg38)
Size:
9,880 bases
Orientation:
Minus strand
chr22:42,536,214-42,540,576
(GRCh37/hg19)
Size:
4,363 bases
Orientation:
Minus strand

Genomic View for CYP2D7 Gene

Genes around CYP2D7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2D7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2D7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP2D7 Gene

Proteins for CYP2D7 Gene

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  • Protein details for CYP2D7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A087X1C5-CP2D7_HUMAN
    Recommended name:
    Putative cytochrome P450 2D7
    Protein Accession:
    A0A087X1C5
    Secondary Accessions:
    • Q6XP50

    Protein attributes for CYP2D7 Gene

    Size:
    515 amino acids
    Molecular mass:
    57489 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP2D7 Gene

Protein Expression for CYP2D7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYP2D7 Gene

Other Protein References for CYP2D7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP2D7 Gene

Domains & Families for CYP2D7 Gene

Gene Families for CYP2D7 Gene

HGNC:

Protein Domains for CYP2D7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP2D7 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450 (Q6XP50_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0A087X1C5

UniProtKB/Swiss-Prot:

CP2D7_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2D7: view

Function for CYP2D7 Gene

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  2. CRISPR
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Molecular function for CYP2D7 Gene

UniProtKB/Swiss-Prot Function:
May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:17149, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:30879, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:142491; EC=1.14.14.1; Evidence={ECO:0000269|PubMed:15051713};.

Enzyme Numbers (IUBMB) for CYP2D7 Gene

Phenotypes From GWAS Catalog for CYP2D7 Gene

Gene Ontology (GO) - Molecular Function for CYP2D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP2D7: view
genes like me logo Genes that share phenotypes with CYP2D7: view

Animal Model Products

miRNA for CYP2D7 Gene

miRTarBase miRNAs that target CYP2D7

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYP2D7 Gene

Localization for CYP2D7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2D7 Gene

Membrane. Multi-pass membrane protein. Cytoplasm. Mitochondrion.

Gene Ontology (GO) - Cellular Components for CYP2D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 15051713
GO:0005739 mitochondrion IEA,IDA 18838503
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with CYP2D7: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for CYP2D7 Gene

Pathways & Interactions for CYP2D7 Gene

genes like me logo Genes that share pathways with CYP2D7: view

Interacting Proteins for CYP2D7 Gene

Gene Ontology (GO) - Biological Process for CYP2D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IBA 21873635
GO:0006805 NOT xenobiotic metabolic process IDA 18838503
GO:0019369 arachidonic acid metabolic process IBA 21873635
GO:0042738 NOT exogenous drug catabolic process IDA 18838503
GO:0055114 oxidation-reduction process IBA 21873635
genes like me logo Genes that share ontologies with CYP2D7: view

No data available for SIGNOR curated interactions for CYP2D7 Gene

Drugs & Compounds for CYP2D7 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for CYP2D7 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CYP2D7 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2D7 Gene

No ASD Table

Relevant External Links for CYP2D7 Gene

GeneLoc Exon Structure for
CYP2D7

Expression for CYP2D7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP2D7 Gene

mRNA expression in normal human tissues for CYP2D7 Gene
mRNA expression by GTEx for CYP2D7 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP2D7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP2D7

mRNA Expression by UniProt/SwissProt for CYP2D7 Gene:

A0A087X1C5-CP2D7_HUMAN
Tissue specificity: Expressed in brain cortex (at protein level).
genes like me logo Genes that share expression patterns with CYP2D7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2D7 Gene

Orthologs for CYP2D7 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for CYP2D7 Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
 Mammalia Cyp2d37-ps 31
  • 17 (a)
 OneToOne
Species where no ortholog for CYP2D7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CYP2D7 Gene

ENSEMBL:
Gene Tree for CYP2D7 (if available)
TreeFam:
Gene Tree for CYP2D7 (if available)

Paralogs for CYP2D7 Gene

Variants for CYP2D7 Gene

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  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2D7 Gene

CP2D7_HUMAN-A0A087X1C5
A rare double polymorphism may allow the expression of a functional protein (PubMed:15051713). However, following studies could not confirm the combined existence of both polymorphisms and therefore question the existence of that protein (PubMed:16169517, PubMed:17494644).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP2D7 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs11090077 - p.Ser70Asn
rs1800754 - p.Ser311Leu
rs2070907 - p.Lys428Glu
rs56127449 - p.His383Arg

Additional dbSNP identifiers (rs#s) for CYP2D7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYP2D7 Gene

Variant ID Type Subtype PubMed ID
dgv1319e212 CNV gain 25503493
dgv733e201 CNV deletion 23290073
esv2724275 CNV deletion 23290073
esv27312 CNV gain+loss 19812545
esv33893 CNV gain+loss 17666407
esv3449611 CNV duplication 20981092
esv3568417 CNV loss 25503493
esv3575484 CNV gain 25503493
nsv1076539 CNV duplication 25765185
nsv1139782 CNV duplication 24896259
nsv3641 CNV deletion 18451855
nsv3643 CNV insertion 18451855
nsv829243 CNV loss 20364138
nsv834210 CNV loss 17160897
nsv955164 CNV deletion 24416366

Additional Variant Information for CYP2D7 Gene

Human Gene Mutation Database (HGMD)
CYP2D7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2D7

No data available for Variation tolerance for CYP2D7 Gene

Disorders for CYP2D7 Gene

Additional Disease Information for CYP2D7

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for CYP2D7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYP2D7 Gene

Publications for CYP2D7 Gene

  1. Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population. (PMID: 17494644) Bhathena A … Katz DA (Drug metabolism and disposition: the biological fate of chemicals 2007) 2 3 4
  2. Expression and functional analysis of CYP2D6.24, CYP2D6.26, CYP2D6.27, and CYP2D7 isozymes. (PMID: 18838503) Zhang WY … Yu AM (Drug metabolism and disposition: the biological fate of chemicals 2009) 3 4
  3. CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein? (PMID: 16169517) Gaedigk A … Leeder JS (Biochemical and biophysical research communications 2005) 3 4
  4. A frameshift mutation and alternate splicing in human brain generate a functional form of the pseudogene cytochrome P4502D7 that demethylates codeine to morphine. (PMID: 15051713) Pai HV … Ravindranath V (The Journal of biological chemistry 2004) 3 4
  5. Functional characterization of CYP2D7 gene variants. (PMID: 30040020) Jukic MM … Ingelman-Sundberg M (Pharmacogenomics 2018) 3

ExternalLinks

View latest publications for CYP2D7 gene in Mastermind

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