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

DDRGK1 Gene

protein-coding   GIFtS: 45
GCID: GC20M003170

DDRGK domain containing 1

(Previous name: chromosome 20 open reading frame 116 )
(Previous symbol: C20orf116)
 Explore 5 diseases affiliated with
DDRGK1 via our new
 Human Malady Compendium 
Biological research products
for DDRGK1
    

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

Aliases
DDRGK Domain Containing 11 2     Dashurin2
C20orf1161 2 3     UFBP12
DJ1187M17.31     DDRGK Domain-Containing Protein 12
Chromosome 20 Open Reading Frame 1161     UFM1-Binding Protein 1 Containing A PCI Domain2

External Ids:    HGNC: 161101   Entrez Gene: 659922   Ensembl: ENSG000001981717   UniProtKB: Q96HY63   

Export aliases for DDRGK1 gene to outside databases

Previous GC identifers: GC20M003120 GC20M003121 GC20M003122


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

  --

(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_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDRGK1 gene promoter:
         RFX1   Spz1   ISGF-3   Sp1   Pbx1a   LUN-1   c-Ets-1   Ik-2   CP2   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDRGK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDRGK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDRGK1


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

DDRGK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDRGK1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M003170:  view genomic region     (about GC identifiers)

Start:
3,170,996 bp from pter      End:
3,185,331 bp from pter
Size:
14,336 bases      Orientation:
minus 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: DDRGK_HUMAN, Q96HY6 (See protein sequence)
Recommended Name: DDRGK domain-containing protein 1 precursor  
Size: 314 amino acids; 35611 Da
Subcellular location: Endoplasmic reticulum
Secondary accessions: A6NIU5 C9JSZ5 Q9BW47
Alternative splicing: 2 isoforms:  Q96HY6-1   Q96HY6-2   

Explore the universe of human proteins at neXtProt for DDRGK1: NX_Q96HY6

Post-translational modifications:

  • Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267. The role of ufmylation is unclear1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HY6

  • DDRGK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_076424.1  
    ENSEMBL proteins: 
     ENSP00000346483   ENSP00000369548  

    Human Recombinant Protein Products: 
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    Novus Biologicals DDRGK1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DDRGK1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--


    DDRGK1 for ontologies           About GeneDecksing



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    Uscn Antibodies for DDRGK1
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    Uscn ELISAs and CLIAs for DDRGK1


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

    DDRGK1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019153 DDRGK_dom-contain

    Graphical View of Domain Structure for InterPro Entry Q96HY6

    ProtoNet protein and cluster: Q96HY6

    1 Blocks protein family: IPB000717 Domain in components of the proteasome

    UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6
    Similarity: Belongs to the DDRGK1 family
    Similarity: Contains 1 PCI 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

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DDRGK1:
    hsa-miR-4291 hsa-miR-3142 hsa-miR-513a-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDRGK1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDRGK1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    DDRGK1 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 DDRGK1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DDRGK1 (Q96HY61, 3 ENSP000003464834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK5RAP3Q96JB51, 3, ENSP000003446834EBI-1054024,EBI-718818 I2D: score=2 STRING: ENSP00000344683
    UFL1O948743, ENSP000003582834I2D: score=5 STRING: ENSP00000358283
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (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

    DDRGK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDRGK1
    1 PharmGKB related drug/compound annotation for DDRGK1 gene
    Drug/compound PharmGKB Annotation
    azathioprineCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about DDRGK1 / DDRGK 

    (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 DDRGK1 gene: 
    NM_023935.1  

    Unigene Cluster for DDRGK1:

    DDRGK domain containing 1
    Hs.471975  [show with all ESTs]
    Unigene Representative Sequence: AK310809
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354488(uc002wic.3) ENST00000496781 ENST00000470203 ENST00000380201(uc010gax.1)


    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DDRGK1:
    hsa-miR-4291 hsa-miR-3142 hsa-miR-513a-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDRGK1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDRGK1 (see all 4)
    OriGene shRNA RFP: DDRGK1
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DDRGK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDRGK1

    Additional cDNA sequence: 

    AF086090.1 AK310809.1 BC000643.1 BC007957.1 BC011851.1 

    10 DOTS entries:

    DT.100816724  DT.116418  DT.40305266  DT.120819851  DT.100816718  DT.100816722  DT.91812988  DT.120819836 
    DT.91746425  DT.95099689 

    24/233 AceView cDNA sequences (see all 233):

    AW328644 CR625227 BM763524 BU683068 CF127486 BM703050 CF127530 BM799784 
    CA412597 BM782105 CA423158 BQ574491 CA307728 AA532363 BM545118 AA484806 
    CA488019 BM765927 AA075563 BU846419 BM564917 BF725333 BF528118 BP431648 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DDRGK1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
    SP1:              -                                         -     -                     
    SP2:              -                                                                     
    SP3:              -                                                                     
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for DDRGK1

    (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

    DDRGK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGAGGAAC

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

    About this image
    See DDRGK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDRGK1

    SOURCE GeneReport for Unigene cluster: Hs.471975

    UniProtKB/Swiss-Prot: DDRGK_HUMAN, Q96HY6
    Tissue specificity: Ubiquitously expressed (at protein level)

        SABiosciences Custom PCR Arrays for DDRGK1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDRGK1

    (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 DDRGK1 gene from 9/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddrgk11 , 5 DDRGK domain containing 11, 5 85.24(n)1
    84.39(a)1
      2 (63.24 cM)5
    770061  NM_029832.21  NP_084108.11 
     1306539605 
    chicken
    (Gallus gallus)
    Aves DDRGK11 DDRGK domain containing 1 68.19(n)
    68.07(a)
      422941  XM_420879.3  XP_420879.2 
    lizard
    (Anolis carolinensis)
    Reptilia DDRGK16
    --
    57(a)
    1 ↔ 1
    GL343301.1(1562624-1596078)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.41292 Xenopus laevis transcribed sequence with moderate similarity more 75.04(n)    48063209 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564882 hypothetical protein MGC56488 75.02(n)   393263  BC049458.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58621 CG5862 53.5(n)
    43.71(a)
      42516  NM_142697.3  NP_650954.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_ZK1236.71 Protein ZK1236.7 50.2(n)
    44.58(a)
      176194  NM_066466.2  NP_498867.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G271201 DDRGK domain-containing protein 1 48.19(n)
    45.35(a)
      828820  NM_118846.3  NP_567767.1 
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    32(a)
    1 ↔ 1
    7(194763-198857)


    ENSEMBL Gene Tree for DDRGK1 (if available)
    TreeFam Gene Tree for DDRGK1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/382 NCBI SNPs in DDRGK1 are shown (see all 382    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496181611,2
    --3170568(+) CACCAC/GTGGGT 1 -- int10--------
    rs1443675971,2
    --3170600(+) ACTTTC/TTGTCA 1 -- int10--------
    rs1890065651,2
    --3170604(+) TTTGTC/TAAGGA 1 -- int10--------
    rs1813865511,2
    --3170611(+) AGGATA/GTAGAG 1 -- int10--------
    rs1401841181,2
    --3170701(+) CTTCCC/TTCTAC 1 -- int10--------
    rs1431659201,2
    --3170784(+) CTATCC/TTTGAT 1 -- int10--------
    rs1466783281,2
    --3170816(+) CCGCTG/TGCTCT 1 -- int10--------
    rs1391829811,2
    --3170926(+) TGAGTG/TGGGGC 1 -- int10--------
    rs584390541,2
    C,F,--3170939(+) AAGAAG/CAGAAA 1 -- int14Minor allele frequency- C:0.18WA CSA NA 242
    rs38309331,2
    C,--3170992(+) GAAAC-/AGAGTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for DDRGK1 (3170996 - 3185331 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DDRGK1
         1 CNV: 5121
    Human Gene Mutation Database (HGMD): DDRGK1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DDRGK1
    DNA2.0 Custom Variant and Variant Library Synthesis for DDRGK1

    (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

    DDRGK1 for disorders           About GeneDecksing

    5 diseases for DDRGK1:    About MalaCards
    hepatitis c    thrombocytopenia    anemia    hepatitis
    pancreatitis


    Export disorders for DDRGK1 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 DDRGK1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with DDRGK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis. (PubMed id 21494687)1, 3 Lemaire K....Schuit F. (2011)
    2. Cloning and molecular characterization of Dashurin en coded by C20orf116, a PCI-domain containing protein. (PubMed id 20036718)1, 3 Neziri D....Wagner L. (2010)
    3. A novel type of E3 ligase for the Ufm1 conjugation system. (PubMed id 20018847)1, 2 Tatsumi K.... Komatsu M. (2010)
    4. A novel C53/LZAP-interacting protein regulates stabil ity of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF -kappaB signaling. (PubMed id 20228063)1, 3 Wu J....Li H. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (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: 65992 HGNC: 16110 AceView: C20orf116 Ensembl:ENSG00000198171 euGenes: HUgn65992
    ECgene: DDRGK1 H-InvDB: DDRGK1

    (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 DDRGK1 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 DDRGK1 gene:
    Search GeneIP for patents involving DDRGK1

    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
    Advanced Cell Diagnostics
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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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