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WDR65 Gene

protein-coding   GIFtS: 43
GCID: GC01P043638

WD Repeat Domain 65

  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)
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Aliases
WD Repeat Domain 651 2
VWS22
WD Repeat-Containing Protein 652

External Ids:    HGNC: 264851   Entrez Gene: 1494652   Ensembl: ENSG000002437107   OMIM: 6142595   UniProtKB: Q96MR63   

Export aliases for WDR65 gene to outside databases

Previous GC identifers: GC01P043309 GC01P043410 GC01P041757


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WDR65 Gene:
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the
formation of protein-protein complexes in a variety of biological pathways. This family member is thought to
function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene
is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript
variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for WDR65 Gene:
WDR65 (WD repeat domain 65) is a protein-coding gene. Diseases associated with WDR65 include van der woude syndrome 2, and van der woude syndrome.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WDR65 gene promoter:
         GATA-1   GATA-2   PPAR-gamma1   FOXO4   IRF-7A   FOXO1a   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR65 promoter sequence
   Search Chromatin IP Primers for WDR65

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR65


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

WDR65 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR65 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043638:  view genomic region     (about GC identifiers)

Start:
43,637,820 bp from pter      End:
43,720,029 bp from pter
Size:
82,210 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: WDR65_HUMAN, Q96MR6 (See protein sequence)
Recommended Name: WD repeat-containing protein 65  
Size: 1250 amino acids; 144961 Da
Secondary accessions: A6NKQ3 Q17RI9 Q5TAI0
Alternative splicing: 2 isoforms:  Q96MR6-1   Q96MR6-2   (Ref.1 (BAB71217) sequence is in conflict in position: 647:A->T)

Explore the universe of human proteins at neXtProt for WDR65: NX_Q96MR6

Explore proteomics data for WDR65 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WDR65 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001161437.1  NP_001182760.2  NP_689711.2  

    ENSEMBL proteins: 
     ENSP00000361570   ENSP00000435310   ENSP00000434133   ENSP00000434671   ENSP00000432547  
     ENSP00000416933  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR011047 Quinonprotein_ADH-like_supfam
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96MR6

    ProtoNet protein and cluster: Q96MR6

    UniProtKB/Swiss-Prot: WDR65_HUMAN, Q96MR6
    Similarity: Contains 10 WD repeats


    WDR65 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WDR65_HUMAN, Q96MR6
    Induction: May be an IRF6-target

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    WDR65 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WDR65:
     Metaphase cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WDR65
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    1 qRT-PCR Assays for microRNA that regulate WDR65:
    hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidWDR65 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat WDR65

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    cytosol1
    nucleus1
    peroxisome1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR65
    Interactions:

        Search GeneGlobe Interaction Network for WDR65

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WDR65



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for WDR65 gene (4 alternative transcripts): 
    NM_001167965.1  NM_001195831.2  NM_152498.3  NM_001167966.1  

    Unigene Cluster for WDR65:

    WD repeat domain 65
    Hs.527565  [show with all ESTs]
    Unigene Representative Sequence: CR936709
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372492(uc021omk.1) ENST00000528956(uc010ojz.2 uc001ciq.2 uc001cip.2)
    ENST00000529956 ENST00000525227 ENST00000533339 ENST00000534615 ENST00000428122

    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate WDR65:
    hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidWDR65 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for WDR65
    Predesigned siRNA for gene silencing in human, mouse, rat WDR65
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    GenScript: all cDNA clones in your preferred vector (see all 3): WDR65 (NM_152498)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDR65
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR65
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat WDR65
      QuantiFast Probe-based Assays in human, mouse, rat WDR65

    Additional mRNA sequence: 

    AK056562.1 BC117280.1 BC117306.1 BC143804.1 CR936709.1 

    9 DOTS entries:

    DT.99938880  DT.105324  DT.450421  DT.121381838  DT.121381897  DT.100741532  DT.75147103  DT.100649777 
    DT.91951808 

    5 AceView cDNA sequences:

    CB157542 AK056562 AA634516 NM_152498 BV190606 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WDR65 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WDR65 Expression
    About this image

    WDR65 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR65 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.527565
        Custom PCR Arrays for WDR65
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR65

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for WDR65 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr651 , 5 WD repeat domain 651, 5 85.1(n)1
    87.74(a)1
      4 (54.84 cM)5
    686251  NM_026789.41  NP_081065.21 
     1185545515 
    chicken
    (Gallus gallus)
    Aves WDR651 WD repeat domain 65 65.44(n)
    58.82(a)
      424559  XM_422397.4  XP_422397.4 
    lizard
    (Anolis carolinensis)
    Reptilia WDR656
    WD repeat domain 65
    35(a)
    1 ↔ 1
    4(107038443-107096874)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia wdr651 WD repeat domain 65 68.14(n)
    69.07(a)
      100496984  XM_002931606.2  XP_002931652.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wdr651 WD repeat domain 65 61.18(n)
    55.58(a)
      100006472  XM_001345168.5  XP_001345204.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43291 CG4329 44.49(n)
    29.14(a)
      37582  NM_137843.2  NP_611687.1 


    ENSEMBL Gene Tree for WDR65 (if available)
    TreeFam Gene Tree for WDR65 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WDR65 (see all 1844)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664944
    Van der Woude syndrome 2 (VWS2)4--see VAR_0664942 D Y mis40--------
    rs1133925611,2
    C,F--43640348(+) TGGGCA/GTGGTG 3 -- int12Minor allele frequency- G:0.33CSA 3
    rs1114959541,2
    F--43644570(+) ATCAAT/CGATAG 3 -- int11Minor allele frequency- C:0.00CSA 1
    rs1123814331,2
    C,F--43644602(+) ACATAT/AACACC 3 -- int11Minor allele frequency- A:0.50WA 2
    rs602092861,2
    C--43651750(+) AAAAA-/ATTAGC 3 -- int10--------
    rs1135869761,2
    F--43652096(+) GCTAAT/CGCGGT 3 -- int11Minor allele frequency- C:0.00CSA 1
    rs362191361,2
    C--43652282(+) AAAAA-/A/A   
      AAAAAA
    AAAAA
    3 -- int11NA 2
    rs6594581,2
    C,F--43654247(-) atagaC/Tatttc 3 -- int12Minor allele frequency- T:0.11CSA WA 120
    rs617061311,2
    C--43657333(+) TTTTT-/TATCTC 3 -- int10--------
    rs342337051,2
    C--43657471(+) TTTTTT/-CCAGT 3 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for WDR65 (43637820 - 43720029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for WDR65:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2565866CNV Deletion19546169
    esv2747563CNV Deletion23290073
    esv2148585CNV Deletion18987734
    esv2670515CNV Deletion23128226
    esv27491CNV Loss19812545
    nsv822476CNV Loss20364138
    nsv523115CNV Loss19592680
    nsv822464CNV Loss20364138
    nsv461383CNV Loss19166990
    nsv829693CNV Loss17160897

    Human Gene Mutation Database (HGMD): WDR65
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WDR65
    DNA2.0 Custom Variant and Variant Library Synthesis for WDR65

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614259    OMIM disorders: --

    UniProtKB/Swiss-Prot: WDR65_HUMAN, Q96MR6
  • Van der Woude syndrome 2 (VWS2) [MIM:606713]: An autosomal dominant developmental disorder characterized
    by lower lip pits, cleft lip and/or cleft palate. Note=The disease may be caused by mutations affecting the gene
    represented in this entry

  • 8 diseases for WDR65:    
    About MalaCards
    van der woude syndrome 2    van der woude syndrome    cleft lip +/- cleft palate    cleft lip
    cleft palate    multiple myeloma    myeloma    malaria


    WDR65 for disorders           About GeneDecksing

    Genetic Association Database (GAD): WDR65

    Export disorders for WDR65 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)
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    PubMed articles for WDR65 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with WDR65)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer. (PubMed id 21460395)1, 4 Gu J....Wu X. (Cancer Prev Res (Phila) 2011)
    2. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. (PubMed id 21574244)1, 2 Rorick N.K....Schutte B.C. (Am. J. Med. Genet. A 2011)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    7. Diversity of WD-repeat proteins. (PubMed id 18925368)1 Smith T.F. (Subcell. Biochem. 2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Cell-free cotranslation and selection using in vitro virus for high-throughput analysis of protein-protein interactions and complexes. (PubMed id 15867431)1 Miyamoto-Sato E....Yanagawa H. (Genome Res. 2005)
    10. A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. (PubMed id 14743216)1 Bouwmeester T....Superti-Furga G. (Nat. Cell Biol. 2004)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 149465 HGNC: 26485 AceView: FLJ32000 Ensembl:ENSG00000243710 euGenes: HUgn149465
    ECgene: WDR65 H-InvDB: WDR65

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for WDR65 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WDR65 gene:
    Search GeneIP for patents involving WDR65

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Block miRNA regulation of human, mouse, rat WDR65 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing WDR65
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR65 Predesigned siRNA for gene silencing in human, mouse, rat WDR65
     QuantiFast Probe-based Assays in human, mouse, rat WDR65 QuantiTect SYBR Green Assays in human, mouse, rat WDR65
     Custom PCR Arrays for WDR65 Search Chromatin IP Primers for WDR65
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     SwitchGear 3'UTR luciferase reporter plasmids for WDR65
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WDR65
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