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

ANO3 Gene

protein-coding   GIFtS: 49
GCID: GC11P026310

anoctamin 3

(Previous names: chromosome 11 open reading frame 25, transmembrane protein...)
(Previous symbols: C11orf25, TMEM16C)
 Explore 1 disease affiliated with
ANO3 via our new
 Human Malady Compendium 
Biological research products
for ANO3
    

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

Aliases
Anoctamin 31 2     Chromosome 11 Open Reading Frame 251
C11orf251 2 3 5     DYT242
TMEM16C1 2 3 5     Anoctamin-31
Transmembrane Protein 16C1 3     Transmembrane Protein 16C (Eight Membrane-Spanning Domains)2
GENX-39471     

External Ids:    HGNC: 140041   Entrez Gene: 639822   Ensembl: ENSG000001343437   OMIM: 6101105   UniProtKB: Q9BYT93   

Export aliases for ANO3 gene to outside databases

Previous GC identifer: GC11P026049


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

UniProtKB/Swiss-Prot: ANO3_HUMAN, Q9BYT9
Function: Does not exhibit calcium-activated chloride channel (CaCC) activity




(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_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANO3 gene promoter:
         FOXF2   Nkx2-2   NF-AT   NF-AT4   PPAR-gamma1   POU2F1   NF-AT2   NF-AT3   PPAR-gamma2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANO3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANO3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANO3


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

Entrez Gene cytogenetic band: 11p14.2   Ensembl cytogenetic band:  11p14.2   HGNC cytogenetic band: 11p14.1-p13

ANO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P026310:  view genomic region     (about GC identifiers)

Start:
26,210,829 bp from pter      End:
26,684,836 bp from pter
Size:
474,008 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: ANO3_HUMAN, Q9BYT9 (See protein sequence)
Recommended Name: Anoctamin-3  
Size: 981 amino acids; 114657 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Potential). Note=Shows an intracellular localization
(By similarity)
Miscellaneous: The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT)
transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain
that all the members of this family are anion channels or have the 8-transmembrane topology

Explore the universe of human proteins at neXtProt for ANO3: NX_Q9BYT9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYT9

  • ANO3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_113606.2  
    ENSEMBL proteins: 
     ENSP00000432576   ENSP00000256737   ENSP00000435275   ENSP00000432394   ENSP00000440737  
    Reactome Protein details: Q9BYT9
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    Uscn Proteins for ANO3

    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:0016021integral to membrane IEA--
    GO:0034707chloride channel complex ----


    ANO3 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

    ANO3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007632 Anoctamin

    Graphical View of Domain Structure for InterPro Entry Q9BYT9

    ProtoNet protein and cluster: Q9BYT9

    UniProtKB/Swiss-Prot: ANO3_HUMAN, Q9BYT9
    Similarity: Belongs to the anoctamin family


    (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: ANO3_HUMAN, Q9BYT9
    Function: Does not exhibit calcium-activated chloride channel (CaCC) activity

    miRNA
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    hsa-miR-217 hsa-miR-19b-2* hsa-miR-4251 hsa-miR-15a hsa-miR-103a hsa-miR-374c hsa-miR-424 hsa-miR-195
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005229NOT intracellular calcium activated chloride channel activity IDA--
    GO:0005254chloride channel activity ----


    ANO3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ANO3:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 


    (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
    1Ion channel transport
    Ion channel transport1.00
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for ANO3
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    ANO3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANO3

    (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 ANO3

    2 HMDB Compounds for ANO3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    Search CenterWatch for drugs/clinical trials and news about ANO3 

    (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,
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    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 ANO3 gene: 
    NM_031418.2  

    Unigene Cluster for ANO3:

    Anoctamin 3
    Hs.91791  [show with all ESTs]
    Unigene Representative Sequence: AJ300461
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525139 ENST00000256737(uc010rdr.2 uc001mqt.4 uc010rds.2 uc010rdt.2)
    ENST00000531646 ENST00000531568 ENST00000529242 ENST00000537978

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate ANO3 (see all 28):
    hsa-miR-217 hsa-miR-19b-2* hsa-miR-4251 hsa-miR-15a hsa-miR-103a hsa-miR-374c hsa-miR-424 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidANO3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANO3 (see all 4)
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    Clone
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    Additional cDNA sequence: 

    AJ300461.1 AK295143.1 AK295658.1 AK295816.1 AK302659.1 AK304781.1 AK316018.1 X81896.1 

    3 DOTS entries:

    DT.310398  DT.120684036  DT.214133 

    1 AceView cDNA sequence:

    AL120323 

    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

    ANO3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAGATACA

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

    About this image

    ANO3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneThoracic RibOsteochondro Mesenchymal CellsBone, Cartilage
    SomiteThoracic Mesenchymal SclerotomeSomite
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

    See ANO3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANO3

    SOURCE GeneReport for Unigene cluster: Hs.91791
        SABiosciences Custom PCR Arrays for ANO3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO3

    (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 eukaryotes.

    Orthologs for ANO3 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANO31 anoctamin 3 75.15(n)
    77.3(a)
      422968  NM_001199465.1  NP_001186394.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANO36
    --
    81(a)
    1 ↔ 1
    GL343240.1(781741-860166)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.187782 Xenopus laevis transcribed sequence with weak similarity more 75.53(n)    BX851135.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ano31 anoctamin 3 67.92(n)
    72.88(a)
      553392  XM_003201470.1  XP_003201518.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69386
    --
    28(a)
    1 → many
    3L(11978006-11983605)
    worm
    (Caenorhabditis elegans)
    Secernentea anoh-16
    --
    21(a)
    possible ortholog
    III(13246477-13253514)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G730206
    uncharacterized protein
    21(a)
    1 → many
    1(27469534-27473554)
    rice
    (Oryza sativa)
    Liliopsida --
    transmembrane protein 16K, putative, expressed
    19(a)
    1 → many
    1(29317147-29321524)


    ENSEMBL Gene Tree for ANO3 (if available)
    TreeFam Gene Tree for ANO3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANO3 gene
    ANO92  ANO62  ANO22  ANO52  ANO12  ANO102  ANO42  ANO82  
    ANO72  
    7 SIMAP similar genes for ANO3 using alignment to 4 protein entries:     ANO3_HUMAN (see all proteins):
    ANO4    ANO6    ANO5    ANO1    ANO2    ANO9
    ANO7

    ANO3 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

    10/6484 NCBI SNPs in ANO3 are shown (see all 6484    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861406161,2
    --26351723(+) CCTCAC/GGTAGG 1 -- us2k10--------
    rs110295241,2
    C,--26351773(+) CAGAAT/CGATCT 1 -- us2k14Minor allele frequency- C:0.02NA WA 258
    rs1908051531,2
    --26351814(+) TGGATA/GAACAA 1 -- us2k10--------
    rs2017781091,2
    --26351824(+) AATTT-/AAAAAA 1 -- us2k10--------
    rs1496663241,2
    --26352007(+) CATACC/TGAGCT 1 -- us2k10--------
    rs169154801,2
    C,F,H,--26352138(+) GACTTT/CAAGAC 1 -- us2k111Minor allele frequency- C:0.06NA NS EA 1112
    rs1816488061,2
    --26352145(+) AGACCA/GGTTAC 1 -- us2k10--------
    rs1858575901,2
    --26352346(+) CAGATG/TAATCA 1 -- us2k10--------
    rs1477826141,2
    --26352736(+) AGGGGG/TAGGGA 1 -- us2k10--------
    rs1911944001,2
    --26352777(+) GGGCTC/TAATAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ANO3 (26210829 - 26460829 bp, first 250kb of ANO3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for ANO3
         6 CNVs: 39070 39069 71302 5620 65905 5419
         2 Indels: 44871 24704

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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

    ANO3 for disorders           About GeneDecksing

    OMIM gene information: 610110    OMIM disorders: --

    1 disease for ANO3:    About MalaCards
    obesity

    Human Genome Epidemiology (HuGE) Navigator: ANO3 (3 documents)

    Export disorders for ANO3 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 ANO3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with ANO3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PubMed id 12739008)1, 3, 9 Katoh M. and Katoh M. (2003)
    2. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PubMed id 15067359)1, 3 Katoh M. and Katoh M. (2004)
    3. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PubMed id 21984732)2 Scudieri P.... Galietta L.J. (2012)
    4. The ANO3/MUC15 locus is associated with eczema in fami lies ascertained through asthma. (PubMed id 22657408)1 Dizier M.H....Demenais F. (2012)
    5. The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age. (PubMed id 22302790)2 Winpenny J.P. and Gray M.A. (2012)
    6. Mutations in ANO3 cause dominant craniocervical dyston ia: ion channel implicated in pathogenesis. (PubMed id 23200863)1 Charlesworth G....Wood N.W. (2012)
    7. Anoctamins. (PubMed id 21607626)2 Kunzelmann K.... Schreiber R. (2011)
    8. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? (PubMed id 21642943)2 Duran C. and Hartzell H.C. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Common body mass index-associated variants confer ris k of extreme obesity. (PubMed id 19553259)1 Cotsapas C....Daly M.J. (2009)

    (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: 63982 HGNC: 14004 AceView: TMEM16C.4 Ensembl:ENSG00000134343 euGenes: HUgn63982
    ECgene: ANO3 H-InvDB: ANO3

    (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 ANO3 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 ANO3 gene:
    Search GeneIP for patents involving ANO3

    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, 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),
    In Situ Hybridization Assays from
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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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