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

PKDREJ Gene

protein-coding   GIFtS: 45
GCID: GC22M046651

Polycystin (PKD) Family Receptor For Egg Jelly

(Previous names: polycystic kidney disease (polycystin) and REJ (sperm receptor...)
  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
Polycystin (PKD) Family Receptor For Egg Jelly1 2
Polycystic Kidney Disease (Polycystin) And REJ Homolog (Sperm Receptor For
Egg Jelly Homolog, Sea Urchin)1 2
PKD And REJ Homolog2 3
Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg
Jelly Homolog, Sea Urchin)-Like1
Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg
Jelly, Sea Urchin Homolog)-Like1
Polycystic Kidney Disease And Receptor For Egg Jelly-Related Protein2

External Ids:    HGNC: 90151   Entrez Gene: 103432   Ensembl: ENSG000001309437   OMIM: 6046705   UniProtKB: Q9NTG13   

Export aliases for PKDREJ gene to outside databases

Previous GC identifers: GC22M043217 GC22M044863 GC22M044972 GC22M045030 GC22M029595


(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 PKDREJ Gene:
This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11
transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS)
domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human
reproduction. Alternative splice variants have been described but their biological natures have not been
determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for PKDREJ Gene: 
PKDREJ (polycystin (PKD) family receptor for egg jelly) is a protein-coding gene. Diseases associated with PKDREJ include kidney disease, and polycystic kidney disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PKD2.

UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1
Function: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved
in initiating the acrosome reaction of the sperm




(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
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PKDREJ gene promoter:
         ER-alpha   AML1a   HOXA5   IRF-7A   SEF-1 (1)   CUTL1   LCR-F1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKDREJ promoter sequence
   Search SABiosciences Chromatin IP Primers for PKDREJ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKDREJ


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M046651:  view genomic region     (about GC identifiers)

Start:
46,651,560 bp from pter      End:
46,659,219 bp from pter
Size:
7,660 bases      Orientation:
minus strand

(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/Swiss-Prot: PKDRE_HUMAN, Q9NTG1 (See protein sequence)
Recommended Name: Polycystic kidney disease and receptor for egg jelly-related protein precursor  
Size: 2253 amino acids; 255449 Da
Subunit: May form homomultimers or heteromultimers in combination with an as yet unidentified subunits
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B1AJY3 O95850

Explore the universe of human proteins at neXtProt for PKDREJ: NX_Q9NTG1

Explore proteomics data for PKDREJ at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NTG1

  • PKDREJ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKDREJ Protein Expression
    REFSEQ proteins: NP_006062.1  
    ENSEMBL proteins: 
     ENSP00000253255  

    Human Recombinant Protein Products for PKDREJ: 
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    Cloud-Clone Corp. Proteins for PKDREJ 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane TAS9949214
    GO:0016021integral to membrane IEA--

    PKDREJ for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR002859 PKD/REJ-like
     IPR001024 LipOase_LH2
     IPR008976 Lipase_LipOase
     IPR003915 PKD_2
     IPR014010 REJ-like

    Graphical View of Domain Structure for InterPro Entry Q9NTG1

    ProtoNet protein and cluster: Q9NTG1

    1 Blocks protein domain: IPB002859 PKD/REJ-like protein

    UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1
    Similarity: Belongs to the polycystin family
    Similarity: Contains 1 PLAT domain
    Similarity: Contains 1 REJ domain


    PKDREJ 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKDRE_HUMAN, Q9NTG1
    Function: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved
    in initiating the acrosome reaction of the sperm

         Genatlas biochemistry entry for PKDREJ:
    receptor for egg jelly related gene,with extensive homology with PKD1,exclusively expressed in testis

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005262calcium channel activity IBA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    PKDREJ for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PKDREJ:
     Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pkdrej):
     reproductive system 

    PKDREJ for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pkdrejtm1Dgen for PKDREJ

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PKDREJ 
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    SwitchGear 3'UTR luciferase reporter plasmidPKDREJ 3' UTR sequence
    Inhib. RNA
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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



    Interactions:

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

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0007218neuropeptide signaling pathway IEA--
    GO:0007340acrosome reaction TAS9949214
    GO:0050982detection of mechanical stimulus IBA--
    GO:0055085transmembrane transport ----

    PKDREJ 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PKDREJ (PKDRE)

    Search CenterWatch for drugs/clinical trials and news about PKDREJ / PKDRE

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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

    REFSEQ mRNAs for PKDREJ gene: 
    NM_006071.1  

    Unigene Cluster for PKDREJ:

    Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)
    Hs.241383  [show with all ESTs]
    Unigene Representative Sequence: AF116458
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000253255(uc003bhh.3)
    miRNA
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    hsa-miR-616* hsa-miR-103a-2* hsa-miR-373*
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKDREJ

    Additional mRNA sequence: 

    AF116458.1 AL137288.1 BC027601.1 

    1 DOTS entry:

    DT.40220097 

    7 AceView cDNA sequences:

    BX281259 NM_006071 AF116458 AW191874 BC027601 AL137288 AA399163 

    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

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


    PKDREJ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Testis (Reproductive System)
             sperm   

    See PKDREJ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKDREJ

    SOURCE GeneReport for Unigene cluster: Hs.241383

    UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1
    Tissue specificity: Exclusively expressed in testis

        SABiosciences Custom PCR Arrays for PKDREJ
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKDREJ

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for PKDREJ gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkdrej1 , 5 polycystic kidney disease (polycystin) and REJ (sperm more1, 5 71.27(n)1
    63.99(a)1
      15 (40.42 cM)5
    187661  NM_011105.21  NP_035235.21 
     858146765 
    chicken
    (Gallus gallus)
    Aves PKDREJ6
    polycystic kidney disease (polycystin) and REJ hom...
    41(a)
    1 ↔ 1
    1(71473108-71512233)
    lizard
    (Anolis carolinensis)
    Reptilia PKDREJ6
    Uncharacterized protein
    42(a)
    1 ↔ 1
    5(97735961-97750837)
    fruit fly
    (Drosophila melanogaster)
    Insecta brv36
    brv26
    (see all 3)
    brivido-2
    (see all 3)
    15(a)
    13(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    X(2516102-2518608)
    3L(17335150-17337796)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKDREJ gene
    PKD22  PKD12  PKD2L22  PKD2L12  PKD1L22  PKD1L12  

    PKDREJ for paralogs           About GeneDecksing



    (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

    10/430 SNPs in PKDREJ are shown (see all 430)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365744
    A breast cancer sample4--see VAR_0365742 T I mis40--------
    VAR_0365734
    A breast cancer sample4--see VAR_0365732 A G mis40--------
    rs1821794791,2
    --46651160(+) CTCCTG/TACCTC 1 -- ds50010--------
    rs1461813061,2
    --46651261(+) TAACTC/GTGTGC 1 -- ds50010--------
    rs81359971,2
    C,F,A--46651366(+) GAAACG/AATGGA 1 -- ds50013Minor allele frequency- A:0.33NA WA CSA 6
    rs81390351,2
    C,F,A--46651367(+) AAACGA/GTGGAA 1 -- ds50013Minor allele frequency- G:0.33NA WA CSA 6
    rs1390432341,2
    --46651389(+) GTGTCC/TGCAGG 1 -- ds50010--------
    rs1830557471,2
    --46651401(+) GCCTAA/GTGTGC 1 -- ds50010--------
    rs412798311,2
    C,F--46651623(+) GAACAT/CGCTTC 1 -- ut314Minor allele frequency- C:0.11NA CSA WA 242
    rs81353631,2
    C,F,A,H--46651713(+) CACGCT/CATTAA 1 -- ut3117Minor allele frequency- C:0.34NS EA NA WA CSA 1889

    HapMap Linkage Disequilibrium report for PKDREJ (46651560 - 46659219 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PKDREJ:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834224CNV Loss17160897
    nsv915350CNV Loss21882294
    nsv915349CNV Loss21882294
    dgv5013n71CNV Loss21882294
    nsv820143CNV Loss19587683
    dgv5014n71CNV Loss21882294
    nsv829293CNV Gain20364138
    nsv829281CNV Gain20364138
    nsv428393CNV Gain18775914
    dgv1412e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 604670    OMIM disorders: --

    2 diseases for PKDREJ:    About MalaCards
    kidney disease    polycystic kidney disease

    1 disease from the University of Copenhagen DISEASES database for PKDREJ:
    Polycystic kidney disease

    PKDREJ for disorders           About GeneDecksing


    Export disorders for PKDREJ 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 PKDREJ gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PKDREJ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. (PubMed id 9949214)1, 2, 3 Hughes J.... Harris P.C. (1999)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    3. Polycystin channels and kidney disease. (PubMed id 11698076)1, 2 Stayner C. and Zhou J. (2001)
    4. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PubMed id 10602361)1, 9 Veldhuisen B.... Peters D.J.M. (1999)
    5. Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (2012)
    6. Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ. (PubMed id 17564962)1 Hamm D.... Swanson W.J. (2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. 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)
    10. A third sea urchin sperm receptor for egg jelly module protein, suREJ2, concentrates in the plasma membrane over the sperm mitochondrion. (PubMed id 15008854)9 Galindo B.E....Vacquier V.D. (2004)

    (in PubMed, OMIM, and 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: 10343 HGNC: 9015 AceView: PKDREJ Ensembl:ENSG00000130943 euGenes: HUgn10343
    ECgene: PKDREJ H-InvDB: PKDREJ

    (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 PKDREJ Pharmacogenomics, SNPs, Pathways

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

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



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