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

COMMD6 Gene

protein-coding   GIFtS: 44
GCID: GC13M076099

COMM Domain Containing 6

  See related disease
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
COMM Domain Containing 61 2
Acrg2
Acrg Embryonic Lethality Minimal Region Ortholog2
COMM Domain-Containing Protein 62

External Ids:    HGNC: 240151   Entrez Gene: 1706222   Ensembl: ENSG000001882437   OMIM: 6123775   UniProtKB: Q7Z4G13   

Export aliases for COMMD6 gene to outside databases

Previous GC identifers: GC13M073897 GC13M074998 GC13M056796


(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 COMMD6 Gene:
COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence
of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 (PubMed 16573520)).(supplied by OMIM, Mar 2009)

GeneCards Summary for COMMD6 Gene: 
COMMD6 (COMM domain containing 6) is a protein-coding gene. Diseases associated with COMMD6 include pseudopseudohypoparathyroidism. GO annotations related to this gene include protein binding and NF-kappaB binding.

UniProtKB/Swiss-Prot: COMD6_HUMAN, Q7Z4G1
Function: Down-regulates activation of NF-kappa-B. Inhibits TNF-induced NFKB1 activation




(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_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COMMD6 gene promoter:
         HOXA9   HOXA9B   S8   Elk-1   p53   Meis-1a   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOMMD6 promoter sequence
   Search SABiosciences Chromatin IP Primers for COMMD6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COMMD6


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

Entrez Gene cytogenetic band: 13q22   Ensembl cytogenetic band:  13q22.2   HGNC cytogenetic band: 13q22

COMMD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COMMD6 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M076099:  view genomic region     (about GC identifiers)

Start:
76,099,350 bp from pter      End:
76,123,575 bp from pter
Size:
24,226 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: COMD6_HUMAN, Q7Z4G1 (See protein sequence)
Recommended Name: COMM domain-containing protein 6  
Size: 85 amino acids; 9638 Da
Subunit: Homodimer. Can only homodimerize with isoform 1. Interacts directly with COMMD1 (via COMM domain). Does
not interact with NFKBIB
Subcellular location: Nucleus. Cytoplasm
Secondary accessions: A6NF28 B7ZLN0 Q5TBK4
Alternative splicing: 2 isoforms:  Q7Z4G1-1   Q7Z4G1-2   

Explore the universe of human proteins at neXtProt for COMMD6: NX_Q7Z4G1

Explore proteomics data for COMMD6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z4G1

  • COMMD6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COMMD6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_987091.1  NP_987093.1  

    ENSEMBL proteins: 
     ENSP00000366841   ENSP00000366845   ENSP00000348054   ENSP00000366838   ENSP00000385660  

    Human Recombinant Protein Products for COMMD6: 
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    Cloud-Clone Corp. Proteins for COMMD6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    COMMD6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR017920 COMM
     IPR009886 HCaRG

    Graphical View of Domain Structure for InterPro Entry Q7Z4G1

    ProtoNet protein and cluster: Q7Z4G1

    1 Blocks protein domain: IPB009886 HCaRG

    UniProtKB/Swiss-Prot: COMD6_HUMAN, Q7Z4G1
    Similarity: Contains 1 COMM domain


    COMMD6 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COMD6_HUMAN, Q7Z4G1
    Function: Down-regulates activation of NF-kappa-B. Inhibits TNF-induced NFKB1 activation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15799966
    GO:0051059NF-kappaB binding IPI16573520
         
    COMMD6 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COMMD6 
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    SwitchGear 3'UTR luciferase reporter plasmidCOMMD6 3' UTR sequence
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COMMD6

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

    4 Interacting proteins for COMMD6 (Q7Z4G11, 3 ENSP000003480544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD1Q8N6681, 3, ENSP000003082364EBI-1550081,EBI-1550112 I2D: score=2 STRING: ENSP00000308236
    NFKB1P198383, ENSP000002265744I2D: score=1 STRING: ENSP00000226574
    RELAQ042063, ENSP000003842734I2D: score=1 STRING: ENSP00000384273
    UBCENSP000003448184STRING: ENSP00000344818
    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:0032088negative regulation of NF-kappaB transcription factor activity IDA16573520

    COMMD6 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 COMMD6 (COMD6)

    Search CenterWatch for drugs/clinical trials and news about COMMD6 / COMD6

    (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 COMMD6 gene (2 alternative transcripts): 
    NM_203495.2  NM_203497.2  

    Unigene Cluster for COMMD6:

    COMM domain containing 6
    Hs.508266  [show with all ESTs]
    Unigene Representative Sequence: NM_203497
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377615 ENST00000483290 ENST00000377619 ENST00000486516 ENST00000497707
    ENST00000355801 ENST00000377612 ENST00000460675 ENST00000464050 ENST00000477377
    ENST00000471682 ENST00000406936(uc001vjn.1 uc001vjo.1 uc010aet.1)

    miRNA
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    hsa-miR-3671 hsa-miR-3163 hsa-miR-181c hsa-miR-513a-3p hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d hsa-miR-519a
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF086081.1 AF169971.1 AK000009.1 AY542161.1 BC110837.1 BC117391.1 BC143912.1 BC171758.1 
    BX538116.1 

    13 DOTS entries:

    DT.100698015  DT.100782953  DT.454156  DT.101984781  DT.95167932  DT.100037216  DT.95167940  DT.99978770 
    DT.86855061  DT.95138276  DT.100820919  DT.435165  DT.97850525 

    24/212 AceView cDNA sequences (see all 212):

    AA719970 AA055007 AA906305 AA425275 T35137 CR603325 AI202057 AA972340 
    AI720815 AA832507 AI857470 AA569802 AA026062 AA613470 AW516275 AI282084 
    BX538116 AA569817 AI245881 AA970850 BM069500 AW511935 BM728750 AA542962 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for COMMD6    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4
    SP1:                    -     -     -               
    SP2:                                                
    SP3:                                                
    SP4:                          -     -               


    ECgene alternative splicing isoforms for COMMD6

    (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

    COMMD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTCACTT
    COMMD6 Expression
    About this image


    See COMMD6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COMMD6

    SOURCE GeneReport for Unigene cluster: Hs.508266

    UniProtKB/Swiss-Prot: COMD6_HUMAN, Q7Z4G1
    Tissue specificity: Ubiquitous. Expressed in brain, heart, skeletal muscle, lung, pancreas, liver, kidney, small
    intestine and placenta

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    (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 COMMD6 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Commd65 COMM domain containing 6   --   14 (50.90 cM) 101633766 
    chicken
    (Gallus gallus)
    Aves COMMD66
    Uncharacterized protein
    26(a)
    1 ↔ 1
    1(154256856-154262613)
    lizard
    (Anolis carolinensis)
    Reptilia COMMD66
    Uncharacterized protein
    25(a)
    1 ↔ 1
    3(87344947-87361956)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69642 Xenopus laevis transcribed sequences 74.61(n)    BJ069761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii COMMD66
    COMM domain containing 6
    26(a)
    1 ↔ 1
    9(31611233-31615544)


    ENSEMBL Gene Tree for COMMD6 (if available)
    TreeFam Gene Tree for COMMD6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COMMD6 gene

    COMMD6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COMMD6
    PGOHUM00000244311


    (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

    10/391 SNPs in COMMD6 are shown (see all 391)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs580735581,2
    C--57003391(+) AAAAA-/AAA   
      AAAAAA
    GAAAA
    2 -- int12Minor allele frequency- AAAAAAAAA:0.25NA 4
    rs95930891,2
    C,F,H--76098908(+) TTAACA/CATGGT 2 -- ds50014Minor allele frequency- C:0.06NS EA WA 398
    rs1500252711,2
    --76098941(+) AAGCTA/GATTAA 2 -- ds50010--------
    rs7682611,2
    H--76098968(+) AACTAG/TACATT 2 -- ds50014Minor allele frequency- T:0.00NS EA 414
    rs1475598741,2
    C--76099017(+) CTTGC-/TTTTTA
            
    TTTTT
    2 -- ds50010--------
    rs1129205891,2
    C--76099025(+) TATTT-/A/TA  
            
    TTATT
    2 -- ds50011CSA 2
    rs346150101,2
    C--76099026(+) TATTTA/TTATTT 2 -- ds50011Minor allele frequency- T:0.00NA 2
    rs2017428321,2
    --76099027(+) ATTTT-/TATTTTT 2 -- ds50010--------
    rs793252361,2
    --76099028(+) TTTTTT/ATTTTT 2 -- ds50011Minor allele frequency- A:0.00NA 2
    rs2000540201,2
    --76099028(+) TTTTT-/ATTTTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for COMMD6 (76099350 - 76123575 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for COMMD6 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2421984CNV Duplication20811451
    nsv1089CNV Insertion18451855
    dgv1692n71CNV Loss21882294
    esv32759CNV Loss17666407
    nsv900562CNV Loss21882294
    esv23690CNV Gain19812545
    esv2596575CNV Gain19546169
    nsv514711CNV Gain21397061
    nsv521444CNV Gain19592680
    nsv525594CNV Gain19592680

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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: 612377    OMIM disorders: --

    2 diseases for COMMD6:    About MalaCards
    pseudopseudohypoparathyroidism    


    COMMD6 for disorders           About GeneDecksing


    Export disorders for COMMD6 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 COMMD6 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with COMMD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. COMMD proteins, a novel family of structural and functional homologs of MURR1. (PubMed id 15799966)1, 2, 3 Burstein E....Duckett C.S. (2005)
    2. Characterization of COMMD protein-protein interactions in NF-kappaB signalling. (PubMed id 16573520)1, 2 de Bie P.... Klomp L.W. (2006)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    4. 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)
    5. CCDC22 deficiency in humans blunts activation of proin flammatory NF-kB signaling. (PubMed id 23563313)1 Starokadomskyy P....Burstein E. (2013)
    6. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    7. Genome-wide association study in a Chinese population with diabetic retinopathy. (PubMed id 23562823)1 Sheu W.H....Chen Y.D. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 170622 HGNC: 24015 AceView: COMMD6 Ensembl:ENSG00000188243 euGenes: HUgn170622
    ECgene: COMMD6 H-InvDB: COMMD6

    (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 COMMD6 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 COMMD6 gene:
    Search GeneIP for patents involving COMMD6

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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