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

AEN Gene

protein-coding   GIFtS: 49
GCID: GC15P089164

apoptosis enhancing nuclease

(Previous name: interferon stimulated exonuclease gene 20kDa-like 1 )
(Previous symbol: ISG20L1)
 Explore 1 disease affiliated with
AEN via our new
 Human Malady Compendium 
Biological research products
for AEN
    

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

Aliases
Apoptosis Enhancing Nuclease1 2     FLJ125621
ISG20L11 2 3 5     Apoptosis-Enhancing Nuclease2
Interferon Stimulated Exonuclease Gene 20kDa-Like 11 2     Pp127441
Interferon-Stimulated 20 KDa Exonuclease-Like 12 3     EC 3.1.-.-3
FLJ124841     EC 3.1.13.18

External Ids:    HGNC: 257221   Entrez Gene: 647822   Ensembl: ENSG000001810267   OMIM: 6101775   UniProtKB: Q8WTP83   

Export aliases for AEN gene to outside databases

Previous GC identifers: GC15P086967 GC15P065276


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

UniProtKB/Swiss-Prot: AEN_HUMAN, Q8WTP8
Function: Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis.
When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA
damage signals, leading to enhancement of apoptosis




(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_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AEN gene promoter:
         RFX1   STAT1   Olf-1   E47   HEN1   Pax-3   FOXJ2 (long isoform)   Hand1   Chx10   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAEN promoter sequence
   Search SABiosciences Chromatin IP Primers for AEN

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


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

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P089164:  view genomic region     (about GC identifiers)

Start:
89,164,527 bp from pter      End:
89,175,513 bp from pter
Size:
10,987 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: AEN_HUMAN, Q8WTP8 (See protein sequence)
Recommended Name: Apoptosis-enhancing nuclease  
Size: 325 amino acids; 36350 Da
Subcellular location: Nucleus. Nucleus, nucleolus. Note=Localized predomintly in the nucleolus. Translocates from the
nucleolus to the nucleoplasm upon apoptosis induction
Sequence caution: Sequence=AAH14407.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14091.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: C9J571 Q9BSA5 Q9H9X7
Alternative splicing: 2 isoforms:  Q8WTP8-1   Q8WTP8-2   

Explore the universe of human proteins at neXtProt for AEN: NX_Q8WTP8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WTP8

  • 2 DME Specific Peptides for AEN (Q8WTP8)
     HSSVEDA  VLYDKYIRPE 

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

    REFSEQ proteins: NP_073604.3  
    ENSEMBL proteins: 
     ENSP00000331944   ENSP00000453631   ENSP00000368533  

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    Novus Biologicals AEN Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AEN

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA16171785
    GO:0005730nucleolus IDA--


    AEN for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AEN


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

    AEN for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR013520 Exonuclease_RNaseT/DNA_pol3
     IPR006055 Exonuclease
     IPR012337 RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8WTP8

    ProtoNet protein and cluster: Q8WTP8

    2 Blocks protein families:
    IPB006055 Exonuclease
    IPB013520 Exonuclease


    UniProtKB/Swiss-Prot: AEN_HUMAN, Q8WTP8
    Similarity: Contains 1 exonuclease 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: AEN_HUMAN, Q8WTP8
    Function: Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis.
    When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA
    damage signals, leading to enhancement of apoptosis
    Induction: Up-regulated by p53/TP53 in response to ionizing radiation and DNA-damaging agents such as adriamycin.
    Phosphorylation of p53/TP53 at 'Ser-15' is required for effective induction

    Enzyme Numbers (IUBMB): EC 3.1.-.-1 EC 3.1.13.12

    miRNA
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    hsa-miR-3934 hsa-let-7d hsa-miR-1224-3p hsa-miR-106a hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidAEN 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AEN

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0004527exonuclease activity IDA18264133


    AEN for ontologies           About GeneDecksing



    (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 AEN

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for AEN (Q8WTP83 ENSP000003319444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZFP64Q9NPA53I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    ABCE1ENSP000002965774STRING: ENSP00000296577
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0010212response to ionizing radiation IDA16171785
    GO:0042771intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IDA18264133


    AEN 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
    EMD Millipore small molecules for AEN:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AEN
    Search CenterWatch for drugs/clinical trials and news about AEN 

    (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 AEN gene: 
    NM_022767.3  

    Unigene Cluster for AEN:

    Apoptosis enhancing nuclease
    Hs.436102  [show with all ESTs]
    Unigene Representative Sequence: AB209323
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332810(uc002bmt.2 uc010bnm.1) ENST00000557787(uc010bnl.2)
    ENST00000559528 ENST00000560174 ENST00000558327 ENST00000557927 ENST00000379231


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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate AEN (see all 20):
    hsa-miR-3934 hsa-let-7d hsa-miR-1224-3p hsa-miR-106a hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidAEN 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AEN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AEN

    Additional cDNA sequence: 

    AB209323.1 AF318330.1 AF327352.1 AK022546.1 AK022624.1 AK128623.1 AK308119.1 BC005164.1 
    BC014407.1 BC020988.1 

    11 DOTS entries:

    DT.75103713  DT.100764611  DT.100785255  DT.100785245  DT.121036988  DT.95073379  DT.99949586  DT.100785254 
    DT.102843984  DT.97768521  DT.100785256 

    24/276 AceView cDNA sequences (see all 276):

    BM801751 BM745692 AI752192 AA227388 BM759943 BQ271083 BM504615 BX283892 
    BM477244 CB120991 AA969167 BE385033 BG329274 BM977933 BM770493 NM_022767 
    AI341441 BI820992 BU178063 CD366313 AW070317 AW410818 BQ225954 BG114228 

    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

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

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

    About this image
    See AEN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AEN

    SOURCE GeneReport for Unigene cluster: Hs.436102
        SABiosciences Custom PCR Arrays for AEN
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AEN

    (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 AEN gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AEN1 apoptosis enhancing nuclease 64.5(n)
    58.12(a)
      415496  XM_413869.3  XP_413869.3 
    lizard
    (Anolis carolinensis)
    Reptilia AEN6
    --
    37(a)
    1 ↔ 1
    GL343844.1(143338-149575)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB944151.12   -- 73.69(n)    CB944151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BX294110.16
    --
    31(a)
    possible ortholog
    25(19586822-19590539)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AEN gene
    ISG202  ISG20L22  REXO42  
    3 SIMAP similar genes for AEN using alignment to 3 protein entries:     AEN_HUMAN (see all proteins):
    pp12744    ISG20    ISG20L2

    AEN 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

    10/309 NCBI SNPs in AEN are shown (see all 309    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2020313321,2
    --89162539(+) CACAT-/GAGGAGAG 1 -- us2k10--------
    rs1414667441,2
    --89162606(+) CAGAGA/GATCTG 1 -- us2k10--------
    rs1855645141,2
    --89162641(+) CTTGGG/TTGGGT 1 -- us2k10--------
    rs1122487181,2
    C,--89162709(+) AGGTCA/GGGAGT 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs1382779411,2
    --89162722(+) GAGACA/CAGCCT 1 -- us2k10--------
    rs1438619031,2
    --89162788(+) GTGGCA/GCGTGC 1 -- us2k10--------
    rs129167831,2
    C,F,--89162813(+) GTTCCT/GGAGGC 1 -- us2k19Minor allele frequency- G:0.40NA WA CSA 134
    rs1472110421,2
    --89162852(+) AGGCAC/GATGTT 1 -- us2k10--------
    rs49323621,2
    C,F,A,H,--89162992(+) CTGAAC/GACCGC 1 -- us2k19Minor allele frequency- G:0.42NA WA EA 370
    rs796540951,2
    F,--89162996(+) AGACCG/TCTGTC 1 -- us2k11Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for AEN (89164527 - 89175513 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AEN: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AEN
    DNA2.0 Custom Variant and Variant Library Synthesis for AEN

    (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

    AEN for disorders           About GeneDecksing

    OMIM gene information: 610177    OMIM disorders: --

    1 disease for AEN:    About MalaCards
    gastric outlet obstruction

    1 disease from the University of Copenhagen DISEASES database for AEN:
    Liver neoplasm

    Export disorders for AEN 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 AEN gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with AEN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p53 target gene AEN is a nuclear exonuclease required for p53-dependent apoptosis. (PubMed id 18264133)1, 2, 3 Kawase T....Taya Y. (2008)
    2. Identification of a novel ionizing radiation-induced nuclease, AEN, and its functional characterization in apoptosis. (PubMed id 16171785)1, 2, 3 Lee J.H....Bae S. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. ISG20L1 is a p53 family target gene that modulates ge notoxic stress-induced autophagy. (PubMed id 20429933)1 Eby K.G....Pietenpol J.A. (2010)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    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: 64782 HGNC: 25722 AceView: FLJ12484 Ensembl:ENSG00000181026 euGenes: HUgn64782
    ECgene: AEN H-InvDB: AEN

    (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 AEN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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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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     AEN 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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