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

OTOG Gene

protein-coding   GIFtS: 39
GCID: GC11P017530

otogelin

 Explore 2 diseases affiliated with
OTOG via our new
 Human Malady Compendium 
Biological research products
for OTOG
    

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

Aliases
Otogelin1
OTGN1 2 3 5
Mlemp1
FLJ463461
DFNB18B2

External Ids:    HGNC: 85161   Entrez Gene: 3409902   Ensembl: ENSG000001881627   OMIM: 6044875   UniProtKB: Q6ZRI03   

Export aliases for OTOG gene to outside databases

Previous GC identifers: GC11U990096 GC11P017534 GC11P017537 GC11P017252


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

UniProtKB/Swiss-Prot: OTOG_HUMAN, Q6ZRI0
Function: Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the
otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization
and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in
mechanotransduction processes (By similarity)




(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_018922.1  NC_000011.9  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTOG gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   E2F-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for OTOG

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


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

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p14.3

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P017530:  view genomic region     (about GC identifiers)

Start:
17,568,920 bp from pter      End:
17,668,697 bp from pter
Size:
99,778 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: OTOG_HUMAN, Q6ZRI0 (See protein sequence)
Recommended Name: Otogelin precursor  
Size: 2925 amino acids; 314794 Da
Subcellular location: Apical cell membrane; Peripheral membrane protein; Extracellular side (By similarity). Secreted,
extracellular space (By similarity). Note=Found in fiber-like structures during the maturation process of the
tectorial membrane (By similarity)
Secondary accessions: A8MTX6 A8MUJ0 B7WPC4
Alternative splicing: 2 isoforms:  Q6ZRI0-1   Q6ZRI0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OTOG: NX_Q6ZRI0

Post-translational modifications:

  • N-glycosylated (By similarity). Not O-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZRI0

  • OTOG Protein expression data from MOPED and PaxDb:    About this image 
    OTOG Protein Expression

    ENSEMBL proteins: 
     ENSP00000382329   ENSP00000399057   ENSP00000341666   ENSP00000382323  

    Human Recombinant Protein Products for OTOG: 
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    Uscn Proteins for OTOG

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0005829cytosol IEA--
    GO:0016324apical plasma membrane IEA--

    OTOG for ontologies           About GeneDecksing



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

    OTOG for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR014853 Unchr_dom_Cys-rich
     IPR007934 AbfB
     IPR000742 EG-like_dom
     IPR006207 Cys_knot_C
     IPR002919 TIL_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZRI0

    ProtoNet protein and cluster: Q6ZRI0

    1 Blocks protein family: IPB002919 Trypsin inhibitor-like

    UniProtKB/Swiss-Prot: OTOG_HUMAN, Q6ZRI0
    Similarity: Belongs to the otogelin family
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 TIL (trypsin inhibitory-like) domain
    Similarity: Contains 4 VWFD domains


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OTOG_HUMAN, Q6ZRI0
    Function: Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the
    otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization
    and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in
    mechanotransduction processes (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0046556alpha-N-arabinofuranosidase activity IEA--
         
    OTOG for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OTOG:
     Decreased number of cells in m 

         3 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Otog):
     behavior/neurological  hearing/vestibular/ear  reproductive system 

    OTOG for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OTOG 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOG


    (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



    Interactions:

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0008344adult locomotory behavior IEA--
    GO:0046373L-arabinose metabolic process IEA--

    OTOG for ontologies           About GeneDecksing



    (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 OTOG
    Search CenterWatch for drugs/clinical trials and news about OTOG 

    (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, Sirion Biotech, 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 OTOG gene: 
    NM_198497.1  

    Unigene Cluster for OTOG:

    Otogelin
    Hs.688380  [show with all ESTs]
    Unigene Representative Sequence: XM_291816
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399397 ENST00000498332 ENST00000428619 ENST00000485669 ENST00000342528(uc001mnh.1)
    ENST00000399391

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOG (see all 6)
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTOG
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat OTOG 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOG

    Additional cDNA sequence: 

    AK128214.1 XM_291816.8 

    4 DOTS entries:

    DT.120725444  DT.101972486  DT.120725443  DT.120749884 

    2 AceView cDNA sequences:

    AK128214 BV173919 

    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

    OTOG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    OTOG Expression
    About this image
    See OTOG Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.688380
        SABiosciences Custom PCR Arrays for OTOG

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOG

    (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 OTOG gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OTOG6
    Uncharacterized protein
    23(a)
    1 ↔ 1
    5(13094304-13185598)
    lizard
    (Anolis carolinensis)
    Reptilia OTOG6
    --
    23(a)
    1 ↔ 1
    1(66982664-67093454)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.347532 Xenopus laevis transcribed sequence with weak similarity more 74.97(n)    CB180339.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01073388.16
    CABZ01073389.16
    (see all 3)
    --
    4(a)
    4(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    Zv9_NA551(7720-20743)
    Zv9_NA551(27558-29779)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTOG gene
    MUC5AC2  TECTA2  MUC22  OTOGL2  MUC62  MUC5B2  MUC192  FCGBP2  
    VWF2  BMPER2  
    2 SIMAP similar genes for OTOG using alignment to 3 protein entries:     OTOG_HUMAN (see all proteins):
    OTOGL    MUC5AC

    OTOG 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

    10/1826 NCBI SNPs in OTOG are shown (see all 1826    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728703531,2
    --17251920(+) CACCAC/TCATCA 1 -- us2k10--------
    rs123632881,2
    --17252135(+) CTTTTA/GTTATT 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs79304031,2
    C,F,A--17252146(+) CAATCG/ATCATT 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs728703541,2
    C,F--17252328(+) ACTGAT/CCCCTG 1 -- us2k13Minor allele frequency- C:0.11WA NA EA 358
    rs110243201,2
    H--17252333(+) TCCCTG/AAGTGG 1 -- us2k14Minor allele frequency- A:0.00NS EA 414
    rs728703551,2
    C,F--17252354(+) NNNNTC/TAGCAT 1 -- us2k13Minor allele frequency- T:0.11WA NA EA 358
    rs581895791,2
    C--17252410(+) CTTGCG/ATCTCT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs122829381,2
    --17252473(+) CCTCTA/GTGCTT 1 -- us2k10--------
    rs1114250801,2
    --17252912(+) GGCTCG/AAGGAA 2 /Q /R mis11Minor allele frequency- A:0.50CSA 2
    rs2015485901,2
    C--17253329(+) CCCCCC/TCCCCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for OTOG (17568920 - 17668697 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OTOG: --
    Human Gene Mutation Database (HGMD): OTOG

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    OTOG for disorders           About GeneDecksing

    OMIM gene information: 604487    OMIM disorders: --

    2 diseases for OTOG:    About MalaCards
    autosomal recessive nonsyndromic deafness    nonsyndromic deafness

    1 disease from the University of Copenhagen DISEASES database for OTOG:
    Nonsyndromic deafness

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

    1. Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. (PubMed id 9405633)1, 3 Cohen-Salmon M....Petit C. (1997)
    2. Targeted disruption of otog results in deafness and severe imbalance. (PubMed id 10655058)1, 9 Simmler M.C....Panthier J.J. (2000)
    3. Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. (PubMed id 10337628)1, 9 Cohen-Salmon M....Petit C. (1999)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes. (PubMed id 11063250)9 Simmler M.C....Panthier J.J. (2000)
    7. Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene. (PubMed id 18452040)9 Moreno-Pelayo M.A....Richardson G.P. (2008)

    (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: 340990 HGNC: 8516 AceView: OTOG Ensembl:ENSG00000188162 euGenes: HUgn340990
    ECgene: OTOG H-InvDB: OTOG

    (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 OTOG 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 OTOG gene:
    Search GeneIP for patents involving OTOG

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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     Browse OriGene Antibodies   Browse OriGene shRNA RFPs  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOG   Browse OriGene genome-wide validated SYBR primer pairs  
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     OriGene Custom Antibody Services for OTOG   OriGene Custom Protein Services for OTOG  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OTOG
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     GenScript Custom Purified and Recombinant Proteins Services for OTOG GenScript cDNA clones with any tag delivered in your preferred vector for OTOG
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     Regulatory tfbs in OTOG promoter
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     OTOG Proteins, Antibodies, CLIAs, and ELISAs
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    Sirion Biotech Customized:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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