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

C16orf13 Gene

protein-coding   GIFtS: 44
GCID: GC16M000605

Chromosome 16 Open Reading Frame 13

  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
Chromosome 16 Open Reading Frame 131 2
UPF0585 Protein C16orf132

External Ids:    HGNC: 141411   Entrez Gene: 843262   Ensembl: ENSG000001307317   UniProtKB: Q96S193   

Export aliases for C16orf13 gene to outside databases

Previous GC identifers: GC16U990159 GC16M000625


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

GeneCards Summary for C16orf13 Gene: 
C16orf13 (chromosome 16 open reading frame 13) is a protein-coding gene. Diseases associated with C16orf13 include focal epilepsy, and intellectual disability.


(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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C16orf13 gene promoter:
         NF-1   AP-2alpha isoform 3   AP-2alpha isoform 2   LCR-F1   E47   HEN1   Ik-2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC16orf13 promoter sequence
   Search SABiosciences Chromatin IP Primers for C16orf13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C16orf13


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

C16orf13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf13 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000605:  view genomic region     (about GC identifiers)

Start:
684,429 bp from pter      End:
686,358 bp from pter
Size:
1,930 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: CP013_HUMAN, Q96S19 (See protein sequence)
Recommended Name: UPF0585 protein C16orf13  
Size: 204 amino acids; 22578 Da
Sequence caution: Sequence=AAK61238.1; Type=Erroneous gene model prediction; Sequence=EAW85785.1; Type=Erroneous
gene model prediction;
Secondary accessions: A8MTR1 A8MWJ8 A8MZA1 B4DG95 B4DIJ3 D6REA6 F6TF62 F6VM53 Q96IW1 Q96MD6
Alternative splicing: 6 isoforms:  Q96S19-1   Q96S19-2   Q96S19-3   Q96S19-4   Q96S19-5   Q96S19-6   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for C16orf13: NX_Q96S19

Explore proteomics data for C16orf13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96S19

  • C16orf13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C16orf13 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001035250.1  NP_001035251.1  NP_001035252.1  NP_001035255.1  NP_115742.3  

    ENSEMBL proteins: 
     ENSP00000444140   ENSP00000440765   ENSP00000445926   ENSP00000440475   ENSP00000456569  
     ENSP00000454359   ENSP00000444460   ENSP00000456393   ENSP00000454993   ENSP00000455614  
     ENSP00000454764  

    Human Recombinant Protein Products for C16orf13: 
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    Cloud-Clone Corp. Proteins for C16orf13 


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    Cloud-Clone Corp. ELISAs for C16orf13 
    Cloud-Clone Corp. CLIAs for C16orf13


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR010342 DUF938

    Graphical View of Domain Structure for InterPro Entry Q96S19

    ProtoNet protein and cluster: Q96S19

    UniProtKB/Swiss-Prot: CP013_HUMAN, Q96S19
    Similarity: Belongs to the UPF0585 family


    C16orf13 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

    Phenotypes:
         2 GenomeRNAi human phenotypes for C16orf13:
     Decreased POU5F1-GFP protein e  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C16orf13 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C16orf13 
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    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): C16orf13 (NM_001040165)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf13


    (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 C16orf13

    (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 C16orf13 (CP013)

    Search CenterWatch for drugs/clinical trials and news about C16orf13 / CP013

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C16orf13 gene (8 alternative transcripts): 
    NM_001040163.1  NM_001040164.1  NM_001040166.1  NM_001040160.1  NM_001040161.1  NM_001040162.1  NM_001040165.1  NM_032366.3  

    Unigene Cluster for C16orf13:

    Chromosome 16 open reading frame 13
    Hs.239500  [show with all ESTs]
    Unigene Representative Sequence: AK057077
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338401(uc002cib.1) ENST00000397666 ENST00000301686 ENST00000448973(uc002chv.1 uc002chw.1 uc002chz.1)
    ENST00000397664(uc002cia.1) ENST00000568077 ENST00000456420 ENST00000397665
    ENST00000564039 ENST00000568773 ENST00000565163 ENST00000568830 ENST00000565799

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate C16orf13
    SwitchGear 3'UTR luciferase reporter plasmidC16orf13 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C16orf13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C16orf13
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C16orf13
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    Primer
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    OriGene qPCR primer pairs and template standards for C16orf13
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C16orf13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C16orf13

    Additional mRNA sequence: 

    AK057077.1 AK293046.1 AK294482.1 AK295628.1 BC007207.1 

    14 DOTS entries:

    DT.92435396  DT.92435392  DT.120676469  DT.95203914  DT.100822569  DT.100822568  DT.95203921  DT.455110 
    DT.102845478  DT.120676483  DT.120676489  DT.100822567  DT.95203929  DT.95203935 

    24/213 AceView cDNA sequences (see all 213):

    CB306904 AI452530 AI392927 AV705368 AW612716 CB138708 BF432695 BE550025 
    CB156542 AI458642 AI521770 BE218089 BQ188706 CB046936 AW005781 AI948489 
    AI042349 AI821104 BE467661 AW027232 AI391582 AI393228 BU931662 AI694786 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for C16orf13 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
    SP1:                                                        -           -     -                             -                                             
    SP2:                                                        -           -                                   -                                             
    SP3:                                                        -           -     -     -     -                 -                                             
    SP4:                                                        -     -     -     -                             -                                             
    SP5:                                            -     -     -           -                                   -                                             


    ECgene alternative splicing isoforms for C16orf13

    (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

    C16orf13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGCTGCC
    C16orf13 Expression
    About this image


    See C16orf13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C16orf13

    SOURCE GeneReport for Unigene cluster: Hs.239500
        SABiosciences Custom PCR Arrays for C16orf13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf13

    (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 animals.

    Orthologs for C16orf13 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610011F06Rik1 , 5 RIKEN cDNA 0610011F06 gene1, 5 85.71(n)1
    86.7(a)1
      17 (12.97 cM)5
    683471  NM_026686.21  NP_080962.11 
     258754645 
    lizard
    (Anolis carolinensis)
    Reptilia C16ORF136
    --
    Uncharacterized protein
    44(a)
    31(a)
    1 ↔ 1
    possible ortholog
    AAWZ02036908(7661-20261)
    2(102397992-102404459)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:567191 zgc:56719 58.78(n)
    57.64(a)
      386899  NM_200116.1  NP_956410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG186611 CG18661 51.68(n)
    43.43(a)
      50438  NM_001201814.1  NP_001188743.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y26E6A.31 Protein Y26E6A.3 48(n)
    45(a)
      3564786  NM_001029785.3  NP_001024956.1 


    ENSEMBL Gene Tree for C16orf13 (if available)
    TreeFam Gene Tree for C16orf13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C16orf13 gene
    1 SIMAP similar gene for C16orf13 using alignment to 7 protein entries:     CP013_HUMAN (see all proteins):
    MGC13114

    C16orf13 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

    10/16 SNPs in C16orf13 are shown (see all 16)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0643684
    ----see VAR_0643682 L P mis40--------
    rs1891618441,2
    C--684669(+) GAGGAC/TGGCCC 5 -- int10--------
    rs2009768921,2
    --684682(+) AACCCC/GTAGAG 5 -- int10--------
    rs1473599151,2
    C--684777(+) TGTCCC/TGAAGC 10 Q R S mis1 syn12Minor allele frequency- T:0.00NA EU 5119
    rs2003453611,2
    C--684807(+) AGAGGA/GTGGGG 5 -- int10--------
    rs1818613751,2
    C--684811(+) GGTGGA/GGAGAT 5 -- int10--------
    rs3738788331,2
    ----684769(+) GAGGGC/TTGTGT 10 T A N S mis10--------
    rs360220171,2
    ----684731(+) CCAGG-/GAGCAG 10 L P G W fra10--------
    rs3776895311,2
    ----684663(+) TTGCTA/GGAGGA 5 -- int10--------
    rs3776337631,2
    ----684704(+) GCCCCC/TGCTCC 5 -- int10--------

    HapMap Linkage Disequilibrium report for C16orf13 (684429 - 686358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for C16orf13 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2750219CNV Deletion23290073
    esv2422427CNV Duplication17116639
    dgv2489n71CNV Loss21882294
    dgv2475n71CNV Loss21882294
    nsv904760CNV Loss21882294
    dgv334n27CNV Loss19166990
    nsv904779CNV Loss21882294
    nsv904707CNV Loss21882294
    dgv2487n71CNV Loss21882294
    nsv904759CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C16orf13
    DNA2.0 Custom Variant and Variant Library Synthesis for C16orf13

    (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
    3 diseases for C16orf13:    About MalaCards
    focal epilepsy    intellectual disability    gastric cancer


    C16orf13 for disorders           About GeneDecksing


    Export disorders for C16orf13 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 C16orf13 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C16orf13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)2 Corbett M.A....Gecz J. (2010)
    6. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    7. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    8. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. 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: 84326 HGNC: 14141 AceView: MGC13114 Ensembl:ENSG00000130731 euGenes: HUgn84326
    ECgene: C16orf13 H-InvDB: C16orf13

    (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 C16orf13 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 C16orf13 gene:
    Search GeneIP for patents involving C16orf13

    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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