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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP2D7P1 Gene

pseudogene   GIFtS: 34
GCID: GC22M042536

Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene...

(Previous names: cytochrome P450, subfamily IID (debrisoquine, sparteine,...)
(Previous symbols: CYP2D, CYP2D@)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 11 2     CYP2D72
CYP2D1 2     CYP2D7AP2
CYP2D@1 2     P450C2D2
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc.,
-Metabolizing) Cluster1
     P450DB12

External Ids:    HGNC: 26241   Entrez Gene: 15642   Ensembl: ENSG000002057027   UniProtKB: F5H6E74   

Export aliases for CYP2D7P1 gene to outside databases

Previous GC identifers: GC22U990010 GC22M040847 GC22M040860 GC22M040866 GC22M025502


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP2D7P1 Gene:
This pseudogene 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. It is possible that, in rare cases, a combination of two SNPs in this gene may result in an
open reading frame encoding a functional enzyme which metabolizes codeine to morphine. This locus is part of a
cluster of cytochrome P450 genes on chromosome 22q13.1. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP2D7P1 Gene: 
CYP2D7P1 (cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1) is a pseudogene. Diseases associated with CYP2D7P1 include toxic encephalopathy, and fascioliasis, and among its related super-pathways are Codeine and morphine metabolism. An important paralog of this gene is CYP1A2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP2D7P1 gene promoter:
         AML1a   GATA-3   CP2   MAZR   POU3F1   IRF-1   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2D7P1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

CYP2D7P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2D7P1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042536:  view genomic region     (about GC identifiers)

Start:
42,536,214 bp from pter      End:
42,540,576 bp from pter
Size:
4,363 bases      Orientation:
minus strand

1 alternative location:
Chr22-,NW_003315971 46,092-50,463     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/TrEMBL: F5H6E7 (See protein sequence)
Recommended Name: Protein CYP2D7P1  
Size: 151 amino acids; 17003 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

CYP2D7P1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

ENSEMBL proteins: 
 ENSP00000437680   ENSP00000445124   ENSP00000439604  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
CYP: Cytochrome P450s

3 InterPro protein domains:
 IPR001128 Cyt_P450
 IPR017972 Cyt_P450_CS
 IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry F5H6E7

ProtoNet protein and cluster: F5H6E7

UniProtKB/TrEMBL: F5H6E7
Similarity: Belongs to the cytochrome P450 family


CYP2D7P1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004497monooxygenase activity ----
GO:0005506iron ion binding ----
GO:0009055electron carrier activity ----
GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
GO:0020037heme binding ----
     
CYP2D7P1 for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CYP2D7P1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Codeine and morphine metabolism
Codeine and Morphine Pathway, Pharmacokinetics0.89


1 PharmGKB Pathway for CYP2D7P1
    Codeine and Morphine Pathway, Pharmacokinetics

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP2D7P1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0055114oxidation-reduction process ----

CYP2D7P1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Search CenterWatch for drugs/clinical trials and news about CYP2D7P1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000435101 ENST00000358097(uc010gyv.3 uc021wqk.1) ENST00000433992(uc003bcg.3 uc003bci.3 uc010gyw.3 uc010gyx.1)
ENST00000424775 ENST00000435688

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24/107 AceView cDNA sequences (see all 107):

CB144729 NM_000106 BC067432 CB137789 AV645915 CB122244 CR456430 CB134922 
AI581683 BC066877 AV691265 BX096000 AV684718 CB135649 AV693300 CK032846 
BG775066 CK130220 CB121435 M20403 CF271949 CD607605 CR614586 CB148831 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP2D7P1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGCTCTTCC
CYP2D7P1 Expression
About this image

    SABiosciences Custom PCR Arrays for CYP2D7P1
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
  --

ENSEMBL Gene Tree for CYP2D7P1 (if available)
TreeFam Gene Tree for CYP2D7P1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CYP2D7P1 gene
CYP1A22  CYP1B12  CYP1A12  CYP17A12  CYP21A22  
18/27 SIMAP similar genes for CYP2D7P1 using alignment to 2 protein entries:     F5H6E7_HUMAN (see all proteins) (see all similar genes):
CYP2D6    CYP2G1P    CYP2R1    CYP2U1    CYP2C9    CYP 2C
CYP2B6    CYP2E1    CYP2A6    CYP2S1    CYP21A2    CYP2J2
CYP2A7    CYP2A13    CYP1B1    CYP2A6V2    DKFZp686I24235    CYP2B7

CYP2D7P1 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for CYP2D7P1
PGOHUM00000259709


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/249 SNPs in CYP2D7P1 are shown (see all 249)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs48220931,2
C,A--42535746(+) GGGAAC/TGTTCT 1 -- ds50010--------
rs1931677771,2
--42535757(+) GGCACA/CTGCCG 1 -- ds50010--------
rs24136801,2
C--42535789(+) CTGGCA/CTATAG 1 -- ds50011Minor allele frequency- C:0.00NA 2
rs611944471,2
C,F--42535808(+) CATGAT/CTTGTC 1 -- ds50012Minor allele frequency- C:0.10WA 120
rs21035551,2
C,A--42535818(+) CTTCCA/GTTTTG 1 -- ds50011Minor allele frequency- G:0.00EA 176
rs27434551,2
C,A,H--42536064(+) GGACAC/TGGGAT 1 -- ds50010--------
rs60026341,2
C,H--42536107(+) TCAACG/TTACCC 1 -- ds50014Minor allele frequency- T:0.00NS EA 374
rs32161791,2
C--42536112(-) GAGAC-/AGGGGTA 1 -- ds50010--------
rs349113751,2
C--42536113(+) ACCCG-/CTTCTCA 1 -- ds50010--------
rs1871106771,2
--42536113(+) TACCCA/GTCTCA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for CYP2D7P1 (42536214 - 42540576 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for CYP2D7P1:    About this table     
Variant IDTypeSubtypePubMed ID
esv2724275CNV Deletion23290073
dgv780e201CNV Deletion23290073
nsv3643CNV Insertion18451855
nsv3641CNV Loss18451855
dgv4981n71CNV Loss21882294
nsv834210CNV Loss17160897
nsv829243CNV Loss20364138
nsv915164CNV Loss21882294
esv27312CNV Gain+Loss19812545
esv33893CNV Gain+Loss17666407


Human Gene Mutation Database (HGMD): CYP2D7P1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
20/21 diseases for CYP2D7P1 (see all 21):    About MalaCards
toxic encephalopathy    fascioliasis    human immunodeficiency virus infectious disease    constipation
agnosia    antley-bixler syndrome    neuroleptic malignant syndrome    autoimmune hepatitis
schizoaffective disorder    aspergillosis    cytochrome p450    candidiasis
porphyria    diarrhea    cholestasis    hypercholesterolemia
skin disease    liver disease    hepatitis c    parkinson's disease

9 diseases from the University of Copenhagen DISEASES database for CYP2D7P1:
Autoimmune hepatitis     Schizophrenia     Breast cancer     Neuroleptic malignant syndrome
Parkinson's disease     Pain agnosia     Schizoaffective disorder     Lung cancer
Liver disease

CYP2D7P1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): CYP2D7P1
Human Genome Epidemiology (HuGE) Navigator: CYP2D7P1 (2 documents)

Export disorders for CYP2D7P1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CYP2D7P1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with CYP2D7P1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population. (PubMed id 17494644)1 Bhathena A....Katz D.A. (2007)
  2. Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing. (PubMed id 16400609)1 Hiller M.... Platzer M. (2006)
  3. CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein? (PubMed id 16169517)1 Gaedigk A....Leeder J.S. (2005)
  4. A frameshift mutation and alternate splicing in human brain generate a functional form of the pseudogene cytochrome P4502D7 that demethylates codeine to morphine. (PubMed id 15051713)1 Pai H.V....Ravindranath V. (2004)
  5. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. (PubMed id 15128046)1 Nelson D.R....Nebert D.W. (2004)
  6. Polymorphism of metabolic genes and susceptibility to occupational chronic manganism. (PubMed id 12171760)1 Zheng Y.X....He F.S. (2002)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  8. Evolution of a highly polymorphic human cytochrome P450 gene cluster: CYP2D6. (PubMed id 1358797)1 Heim M.H. and Meyer U.A. (1992)
  9. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. (PubMed id 2574001)1 Kimura S.... Gonzalez F.J. (1989)
  10. Two mutant alleles of the human cytochrome P-450db1 gene (P450C2D1) associated with genetically deficient metabolism of debrisoquine and other drugs. (PubMed id 2899325)4 Skoda R.C....Meyer U.A. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 1564 HGNC: 2624 AceView: CYP2D6andCYP2D7P1andLOC440832 Ensembl:ENSG00000205702 euGenes: HUgn1564
ECgene: CYP2D7P1 H-InvDB: CYP2D7P1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CYP2D7P1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP2D7P1 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CYP2D7P1 gene:
Search GeneIP for patents involving CYP2D7P1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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