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

TPRN Gene

protein-coding   GIFtS: 46
GCID: GC09M140086

Taperin

(Previous names: chromosome 9 open reading frame 75, deafness, autosomal...)
(Previous symbols: C9orf75, DFNB79)
  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
taperin1 2
C9orf751 2 3 5
DFNB791 2 5
Chromosome 9 Open Reading Frame 751
Deafness, Autosomal Recessive 791
RP11-350O14.72

External Ids:    HGNC: 268941   Entrez Gene: 2862622   Ensembl: ENSG000001760587   OMIM: 6133545   UniProtKB: Q4KMQ13   

Export aliases for TPRN gene to outside databases

Previous GC identifer: GC09M109546


(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 TPRN Gene:
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to
lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with
autosomal recessive deafness. (provided by RefSeq, Oct 2010)

GeneCards Summary for TPRN Gene: 
TPRN (taperin) is a protein-coding gene. Diseases associated with TPRN include dfnb79 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 79. GO annotations related to this gene include phosphatase binding and molecular_function. An important paralog of this gene is PPP1R18.




(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_000009.11  NC_018920.2  NT_024000.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TPRN
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M140086:  view genomic region     (about GC identifiers)

Start:
140,086,069 bp from pter      End:
140,098,645 bp from pter
Size:
12,577 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: TPRN_HUMAN, Q4KMQ1 (See protein sequence)
Recommended Name: Taperin  
Size: 711 amino acids; 75556 Da
Subcellular location: Cell projection, stereocilium (By similarity). Note=Localized prominently at the taper
regions of hair cell stereocilia (By similarity)
Sequence caution: Sequence=AAI11501.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B7ZKU5 Q5VSG5 Q5VSG6 Q6IPP2 Q8NCH2
Alternative splicing: 4 isoforms:  Q4KMQ1-1   Q4KMQ1-2   Q4KMQ1-3   Q4KMQ1-4   

Explore the universe of human proteins at neXtProt for TPRN: NX_Q4KMQ1

Explore proteomics data for TPRN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4KMQ1

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

    TPRN Protein Expression
    REFSEQ proteins: NP_001121700.2  
    ENSEMBL proteins: 
     ENSP00000327617   ENSP00000387100   ENSP00000313704  

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

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032420stereocilium ISS--

    TPRN for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TPRN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR025903 Phostensin/Taperin_N_dom
     IPR026671 PPP1R18/Tprn
     IPR025907 Phostensin/Taperin_PP1-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q4KMQ1

    ProtoNet protein and cluster: Q4KMQ1

    UniProtKB/Swiss-Prot: TPRN_HUMAN, Q4KMQ1
    Similarity: Belongs to the taperin family


    TPRN 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0019902phosphatase binding IEA--
         
    TPRN for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Tprn (no phenotypes)

    TPRN for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidTPRN 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 TPRN

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/10 Interacting proteins for TPRN (Q4KMQ12, 3 ENSP000003137044) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLIC1O002992, 3MINT-62696 MINT-62598 MINT-62772 I2D: score=2 
    ENSG00000206394O002992, 3MINT-62696 MINT-62598 MINT-62772 I2D: score=2 
    ENSG00000223639O002992, 3MINT-62696 MINT-62598 MINT-62772 I2D: score=2 
    ENSG00000226248O002992, 3MINT-62696 MINT-62598 MINT-62772 I2D: score=2 
    ENSG00000226417O002992, 3MINT-62696 MINT-62598 MINT-62772 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP--

    TPRN 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 TPRN

    Search CenterWatch for drugs/clinical trials and news about TPRN

    (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,
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    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 TPRN gene (2 alternative transcripts): 
    NM_173691.3  NM_001128228.2  

    Unigene Cluster for TPRN:

    Taperin
    Hs.323445  [show with all ESTs]
    Unigene Representative Sequence: BC065498
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333046 ENST00000409012(uc004clu.3 uc004clt.3) ENST00000477345
    ENST00000541945 ENST00000321773
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TPRN:
    hsa-miR-1825 hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidTPRN 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK074735.1 BC023530.2 BC048807.1 BC065498.1 BC071831.1 BC098411.1 BC111500.1 BC128601.1 
    BC143385.1 

    7 DOTS entries:

    DT.110913  DT.97845903  DT.40292082  DT.92423534  DT.100748789  DT.121161123  DT.100722408 

    24/387 AceView cDNA sequences (see all 387):

    BQ052047 BU632261 CA489604 AA156490 BM423462 BX374097 BU621497 BM931297 
    BM708387 BM811261 BI258937 BI820162 BU071092 AW295777 BM455279 AI499773 
    BM710183 CD516497 BC009283 BI087274 BQ278992 AW054679 AI632688 AA576417 

    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

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


    TPRN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Colon (Gastrointestinal Tract)
             rectum   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Testis (Reproductive System)

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

    SOURCE GeneReport for Unigene cluster: Hs.323445

    UniProtKB/Swiss-Prot: TPRN_HUMAN, Q4KMQ1
    Tissue specificity: Expression is detected in fetal cochlea

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPRN

    (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 TPRN gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tprn1 , 5 taperin1, 5 76.48(n)1
    73.56(a)1
      2 (17.11 cM)5
    970311  NM_175286.41  NP_780495.21 
     252626185 
    chicken
    (Gallus gallus)
    Aves TPRN1 taperin 59.37(n)
    51.08(a)
      417259  XM_415534.3  XP_415534.3 
    lizard
    (Anolis carolinensis)
    Reptilia TPRN6
    Uncharacterized protein
    42(a)
    1 ↔ 1
    GL344097.1(31422-41564)
    zebrafish
    (Danio rerio)
    Actinopterygii tprn6
    taperin
    28(a)
    1 ↔ 1
    5(62905707-62946700)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TPRN gene
    PPP1R182  
    1 SIMAP similar gene for TPRN using alignment to 3 protein entries:     TPRN_HUMAN (see all proteins):
    C9orf75

    TPRN 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

    10/268 SNPs in TPRN are shown (see all 268)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410905681,2
    --140085699(+) TGCTGC/TCCTTC 1 -- int10--------
    rs1815777711,2
    --140085939(+) CAGATC/TGGGGT 1 -- int10--------
    rs1385918291,2
    --140085966(+) TGGCAC/TAGACG 1 -- int10--------
    rs735636781,2
    C,F--140085970(+) ATAGAC/TGTGCA 1 -- int12Minor allele frequency- T:0.06WA EA 238
    rs132926481,2
    C,F,H--140085991(+) CACTGT/GACCCC 1 -- int124Minor allele frequency- G:0.21NS EA NA WA CSA 2354
    rs132885911,2
    C,F,H--140086022(+) GACCTG/CCCCCT 1 -- int115Minor allele frequency- C:0.23NS EA NA WA CSA 792
    rs1496404361,2
    --140086031(+) CTGCTC/TCCTTC 1 -- int10--------
    rs1843875351,2
    --140086107(+) TCAGAA/GGCAGG 1 -- ut310--------
    rs1483475001,2
    --140086119(+) AAGACA/GCCACT 1 -- ut310--------
    rs11285651,2
    C--140086132(-) GCCCTC/TTGTGA 1 -- ut31 ese32Minor allele frequency- T:0.00NA 4

    HapMap Linkage Disequilibrium report for TPRN (140086069 - 140098645 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for TPRN (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422220CNV Deletion17116639
    dgv8416n71CNV Loss21882294
    dgv8439n71CNV Loss21882294
    dgv8445n71CNV Loss21882294
    dgv8441n71CNV Loss21882294
    dgv8428n71CNV Loss21882294
    dgv8456n71CNV Loss21882294
    nsv894521CNV Loss21882294
    dgv8450n71CNV Loss21882294
    dgv8423n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): TPRN
    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: 613354   
    OMIM disorders: 613307  
    UniProtKB/Swiss-Prot: TPRN_HUMAN, Q4KMQ1
  • Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307]: A form of non-syndromic deafness characterized
    by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for TPRN:    About MalaCards
    dfnb79 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 79    nonsyndromic hearing loss and deafness, autosomal recessive    nonsyndromic deafness

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

    TPRN for disorders           About GeneDecksing


    Export disorders for TPRN 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 TPRN gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TPRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Targeted capture and next-generation sequencing ident ifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness D FNB79. (PubMed id 20170899)1, 2, 3 Rehman A.U....Friedman T.B. (2010)
    2. Mutations in TPRN cause a progressive form of autosom al-recessive nonsyndromic hearing loss. (PubMed id 20170898)1, 2, 3 Li Y....Wollnik B. (2010)
    3. Protein phosphatase 1g isoforms linked interactions in the brain. (PubMed id 23080069)1 Esteves S.L....da Cruz e Silva E.F. (2013)
    4. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    6. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....Silva E.F. (2011)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. DFNB79: reincarnation of a nonsyndromic deafness locu s on chromosome 9q34.3. (PubMed id 19603065)1 Khan S.Y....Friedman T.B. (2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (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: 286262 HGNC: 26894 AceView: MGC14327andC9orf75 Ensembl:ENSG00000176058 euGenes: HUgn286262
    ECgene: TPRN H-InvDB: TPRN

    (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 TPRN 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 TPRN gene:
    Search GeneIP for patents involving TPRN

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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