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

DOK6 Gene

protein-coding   GIFtS: 54
GCID: GC18P067068

docking protein 6

(Previous name: docking protein 5-like )
(Previous symbol: DOK5L)
 Explore 3 diseases affiliated with
DOK6 via our new
 Human Malady Compendium 
Biological research products
for DOK6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Docking Protein 61 2
DOK5L1 2 3
HsT32261 2
Downstream Of Tyrosine Kinase 62 3
MGC207851
Docking Protein 5-Like1

External Ids:    HGNC: 283011   Entrez Gene: 2201642   Ensembl: ENSG000002060527   OMIM: 6114025   UniProtKB: Q6PKX43   

Export aliases for DOK6 gene to outside databases

Previous GC identifers: GC18P065220 GC18P063951


(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 DOK6:
DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM
164761) signaling cascade (Crowder et al., 2004 (PubMed 15286081)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: DOK6_HUMAN, Q6PKX4
Function: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the
assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain
development and/or maintenance




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOK6 gene promoter:
         Sp1   CUTL1   CBF-C   GATA-2   CBF-A   CBF-B   CP1C   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOK6 promoter sequence
   Search SABiosciences Chromatin IP Primers for DOK6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOK6


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

Entrez Gene cytogenetic band: 18q22.2   Ensembl cytogenetic band:  18q22.2   HGNC cytogenetic band: 18q22.2

DOK6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOK6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P067068:  view genomic region     (about GC identifiers)

Start:
67,068,284 bp from pter      End:
67,516,323 bp from pter
Size:
448,040 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DOK6_HUMAN, Q6PKX4 (See protein sequence)
Recommended Name: Docking protein 6  
Size: 331 amino acids; 38318 Da
Subunit: Interacts via its PTB domain with phosphorylated RET
Sequence caution: Sequence=BAB71577.1; Type=Erroneous initiation;
Secondary accessions: A6NNG3 Q4V9S3 Q8WUZ8 Q96HI2 Q96LU2

Explore the universe of human proteins at neXtProt for DOK6: NX_Q6PKX4

Post-translational modifications:

  • On Ret activation, phosphorylated on one or more C-terminal tyrosine residues by an Src family kinase1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PKX4

  • DOK6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689934.2  
    ENSEMBL proteins: 
     ENSP00000372160   ENSP00000462984  

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    Uscn Proteins for DOK6


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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DOK6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002404 Insln_rcpt_S1
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q6PKX4

    ProtoNet protein and cluster: Q6PKX4

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: DOK6_HUMAN, Q6PKX4
    Domain: PTB domain mediates receptor interaction (By similarity)
    Similarity: Belongs to the DOK family. Type B subfamily
    Similarity: Contains 1 IRS-type PTB domain
    Similarity: Contains 1 PH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DOK6_HUMAN, Q6PKX4
    Function: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the
    assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain
    development and/or maintenance

    miRNA
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    hsa-miR-607 hsa-miR-193a-3p hsa-miR-106a hsa-miR-4272 hsa-miR-219-5p hsa-miR-374a hsa-miR-3653 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidDOK6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK6

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005158insulin receptor binding IEA--
    GO:0005543phospholipid binding IEA--


    DOK6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DOK6:
     Decreased p24 protein expressi 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling events regulated by Ret tyrosine kinase
    Signaling events regulated by Ret tyrosine kinase1.00


    1 BioSystems Pathway for DOK6 
        Signaling events regulated by Ret tyrosine kinase


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOK6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for DOK6 (Q6PKX42, 3 ENSP000003721604) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3MINT-74519 I2D: score=2 
    EGFRP005332, 3, ENSP000002754934MINT-74517 MINT-74518 I2D: score=2 STRING: ENSP00000275493
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    RETP079493, ENSP000003479424I2D: score=2 STRING: ENSP00000347942
    GDNFENSP000003171454STRING: ENSP00000317145
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 DOK6
    Search CenterWatch for drugs/clinical trials and news about DOK6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DOK6 gene: 
    NM_152721.5  

    Unigene Cluster for DOK6:

    Docking protein 6
    Hs.278285  [show with all ESTs]
    Unigene Representative Sequence: NM_152721
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382713(uc002lkl.3) ENST00000582172 ENST00000584435 ENST00000582992
    ENST00000577609

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOK6
    8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate DOK6 (see all 91):
    hsa-miR-607 hsa-miR-193a-3p hsa-miR-106a hsa-miR-4272 hsa-miR-219-5p hsa-miR-374a hsa-miR-3653 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidDOK6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOK6 (see all 4)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOK6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOK6

    Additional cDNA sequence: 

    AK057795.1 AL512695.1 AY599248.1 BC008583.1 BC019045.2 BC096744.1 

    6 DOTS entries:

    DT.204190  DT.436966  DT.100737921  DT.65287172  DT.100694926  DT.121085081 

    24/31 AceView cDNA sequences (see all 31):

    AI022989 CD672764 BG190235 BX280184 AK057795 BX357639 BI546276 AA442870 
    BF115572 AY599248 BF057291 BX493291 BC019045 NM_152721 BX493849 BE552411 
    BF530452 BC008583 BM451354 AW051318 AW294913 BG471399 BG572298 AA429780 

    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

    DOK6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCACACACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DOK6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DOK6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOK6

    SOURCE GeneReport for Unigene cluster: Hs.278285

    UniProtKB/Swiss-Prot: DOK6_HUMAN, Q6PKX4
    Tissue specificity: Highly expressed in fetal and adult brain. Highly expressed in the cerebellum. Weak expression in
    kidney, spinal cord and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK6

    (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 chordates.

    Orthologs for DOK6 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DOK61 docking protein 6 84.59(n)
    94.86(a)
      421025  XM_419111.2  XP_419111.2 
    lizard
    (Anolis carolinensis)
    Reptilia DOK66
    --
    79(a)
    1 ↔ 1
    4(46873085-46916328)
    zebrafish
    (Danio rerio)
    Actinopterygii dok61 docking protein 6 73.85(n)
    82.15(a)
      795289  NM_001089439.1  NP_001082908.1 


    ENSEMBL Gene Tree for DOK6 (if available)
    TreeFam Gene Tree for DOK6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DOK6 gene
    DOK42  DOK52  
    3 SIMAP similar genes for DOK6 using alignment to 2 protein entries:     DOK6_HUMAN (see all proteins):
    DOK4    DOK5    FRS2

    DOK6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/8574 NCBI SNPs in DOK6 are shown (see all 8574    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906947331,2
    C,unknown67254568(+) TTAGCA/C/GCAACA 1 -- int10--------
    rs284995451,2
    --64224873(+) CCCTAA/GCTCCA 1 -- int10--------
    rs80898881,2
    C,F,A,H,--67066549(+) TGCAGC/TGTATG 1 -- us2k118Minor allele frequency- T:0.23NS EA NA CSA WA 2226
    rs1462691841,2
    C,--67066603(+) TTAGA-/GGAAAG 1 -- us2k10--------
    rs1915758941,2
    --67066654(+) AGAAGA/GTCAGA 1 -- us2k10--------
    rs570699631,2
    C--67066817(+) TATTT-/AAAAAA 1 -- us2k12Minor allele frequency- A:0.25NA CSA 4
    rs99612521,2
    C,F,H,--67066902(+) TTACAC/TGGGCT 1 -- us2k18Minor allele frequency- T:0.20NA CSA WA EA 368
    rs800714971,2
    F,--67066912(+) TCTAGA/CTGGAG 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1838295771,2
    --67066955(+) TGGATA/GCTCAT 1 -- us2k10--------
    rs1502484441,2
    --67066959(+) TGCTCA/GTCTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DOK6 (67068284 - 67318284 bp, first 250kb of DOK6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 24 variations for DOK6
         15/16 CNVs (see all 16): 37892 67398 50040 88920 50042 50041 43658 50038 10537 50043 50039 53616 39221 7188 1298
         8 Indels: 11974 77929 45678 88922 77928 88921 26098 77930

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    (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.)
    About This Section

    DOK6 for disorders           About GeneDecksing

    OMIM gene information: 611402    OMIM disorders: --

    3 diseases for DOK6:    About MalaCards
    beckwith-wiedemann syndrome    osteoporosis    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for DOK6:
    Beckwith-Wiedemann syndrome
    Human Genome Epidemiology (HuGE) Navigator: DOK6 (2 documents)

    Export disorders for DOK6 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 DOK6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DOK6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dok-6, a novel p62 Dok family member, promotes Ret-mediated neurite outgrowth. (PubMed id 15286081)1, 2, 3 Crowder R.J.... Milbrandt J. (2004)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. An integration of genome-wide association study and g ene expression profiling to prioritize the discovery of novel susceptibility Lo ci for osteoporosis-related traits. (PubMed id 20548944)1 Hsu Y.H....Kiel D.P. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells. (PubMed id 20210798)1 Kurotsuchi A....Takahashi M. (2010)
    7. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    8. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 220164 HGNC: 28301 AceView: DOK5L Ensembl:ENSG00000206052 euGenes: HUgn220164
    ECgene: DOK6 H-InvDB: DOK6

    (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 DOK6 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 DOK6 gene:
    Search GeneIP for patents involving DOK6

    GeneCards and IP:
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    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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     DOK6 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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