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

KRT80 Gene

protein-coding   GIFtS: 51
GCID: GC12M052562

Keratin 80

  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
Keratin 801 2     Keratin B202
KB202 3 5     Keratin, Type II Cytoskeletal 802
Type-II Keratin Kb202 3     keratin-802
CK-802 3     Type II Keratin2
K802 3     Cytokeratin-803
cytokeratin-802     Keratin-803

External Ids:    HGNC: 270561   Entrez Gene: 1445012   Ensembl: ENSG000001677677   OMIM: 6111615   UniProtKB: Q6KB663   

Export aliases for KRT80 gene to outside databases

Previous GC identifers: GC12M050850 GC12M049596


(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 KRT80 Gene:
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are
subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a
type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This
protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of
differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II
keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully
functional isoforms have been found for this gene.(provided by RefSeq, Oct 2010)

GeneCards Summary for KRT80 Gene: 
KRT80 (keratin 80) is a protein-coding gene. Diseases associated with KRT80 include cervix uteri carcinoma in situ, and hepatocellular carcinoma. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT78.

Gene Wiki entry for KRT80 Gene


(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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT80 gene promoter:
         GR   E2F-4   E2F-3a   E2F-5   GR-beta   E2F-2   CBF-A   E2F   E2F-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT80 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT80

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT80


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

KRT80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT80 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052562:  view genomic region     (about GC identifiers)

Start:
52,562,780 bp from pter      End:
52,585,784 bp from pter
Size:
23,005 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: K2C80_HUMAN, Q6KB66 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 80  
Size: 452 amino acids; 50525 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Secondary accessions: Q6P1A5 Q7Z3Q0
Alternative splicing: 3 isoforms:  Q6KB66-1   Q6KB66-2   Q6KB66-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KRT80: NX_Q6KB66

Explore proteomics data for KRT80 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6KB66

  • KRT80 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT80 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001074961.1  NP_872313.2  

    ENSEMBL proteins: 
     ENSP00000369361   ENSP00000378292  

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    Cloud-Clone Corp. Proteins for KRT80 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045095keratin filament IEA--

    KRT80 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
    HGNC Gene Families: 
    IFF2: Intermediate filaments type II, keratins (basic)

    3 InterPro protein domains:
     IPR001664 IF
     IPR016044 F
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry Q6KB66

    ProtoNet protein and cluster: Q6KB66

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C80_HUMAN, Q6KB66
    Similarity: Belongs to the intermediate filament family


    KRT80 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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT80 for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target KRT80:
    hsa-mir-155 (MIRT005257)

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    SwitchGear 3'UTR luciferase reporter plasmidKRT80 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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT80

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

    5/13 Interacting proteins for KRT80 (Q6KB663 ENSP000003782924) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    ATG12O948173I2D: score=1 
    C12orf44Q9BSB43I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    GOSR1O952493I2D: score=1 
    About this table

    (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 KRT80 (K2C80)

    Search CenterWatch for drugs/clinical trials and news about KRT80 / K2C80

    (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 KRT80 gene (2 alternative transcripts): 
    NM_001081492.1  NM_182507.2  

    Unigene Cluster for KRT80:

    Keratin 80
    Hs.140978  [show with all ESTs]
    Unigene Representative Sequence: BC065180
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313234(uc001rzy.3) ENST00000394815(uc001rzw.3 uc001rzx.3)
    ENST00000466011
    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT80 (see all 23):
    hsa-miR-623 hsa-miR-1321 hsa-miR-429 hsa-miR-330-5p hsa-miR-3942-5p hsa-miR-298 hsa-miR-326 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidKRT80 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AJ717743.1 AL162069.1 BC033114.1 BC047308.1 BC065180.1 

    9 DOTS entries:

    DT.91680653  DT.97858078  DT.101986265  DT.100044463  DT.100738875  DT.121117310  DT.121118505  DT.422219 
    DT.121117904 

    24/109 AceView cDNA sequences (see all 109):

    AL556079 AI433717 AW732390 CR596084 BU527047 BM126903 BU754036 BQ895790 
    BG742161 AW591182 BQ919890 AI621365 BQ101170 AA172302 BQ949255 CK818919 
    BQ688514 R63727 BG874400 BQ955144 BQ890197 BU151185 BQ956720 BG824850 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KRT80    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
    SP1:                                                                  
    SP2:                                                  -               
    SP3:                                                  -               


    ECgene alternative splicing isoforms for KRT80

    (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

    KRT80 expression in normal human tissues (normalized intensities)      KRT80 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGTACAGC
    KRT80 Expression
    About this image


    KRT80 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
             limbal epithelial basal cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
             limbal epithelial basal cells   
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem Progenitor E68
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Human Renal Mesangial Cells (HRMC)   
     
     Lung (Respiratory System)
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   

    See KRT80 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT80

    SOURCE GeneReport for Unigene cluster: Hs.140978

    UniProtKB/Swiss-Prot: K2C80_HUMAN, Q6KB66
    Tissue specificity: Weakly expressed in tongue, but not skin or in any other tissues or organs examined

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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 KRT80 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt801 , 5 keratin 801, 5 85.32(n)1
    85.62(a)1
      15 (56.78 cM)5
    741271  NM_028770.21  NP_083046.21 
     1013495715 
    chicken
    (Gallus gallus)
    Aves KRT801 keratin 80 63.1(n)
    51.99(a)
      431302  XM_428853.3  XP_428853.2 
    lizard
    (Anolis carolinensis)
    Reptilia KRT806
    --
    Uncharacterized protein
    47(a)
    39(a)
    1 ↔ 1
    possible ortholog
    2(95942009-95980050)
    2(95805788-95817465)


    ENSEMBL Gene Tree for KRT80 (if available)
    TreeFam Gene Tree for KRT80 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT80 gene
    KRT782  
    18/41 SIMAP similar genes for KRT80 using alignment to 1 protein entry:     K2C80_HUMAN(see all similar genes):
    KRTHB6    KRT4    KRT5    KRT6C    KRT6A    KRT6B
    KRT7    KRT72    KRT3    KRT75    KRT8    KRT71
    KRT73    KRT76    KRT79    KRT1B    KRT78    KRT84

    KRT80 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

    10/618 SNPs in KRT80 are shown (see all 618)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018031311,2
    --49604727(+) GTGTG-/CATGTGC 2 -- int10--------
    rs1440352101,2
    C--52396419(+) GTGGTA/GCCTGG 2 -- ds50010--------
    rs1473009061,2
    --52396514(+) CTGTGC/TTTATA 2 -- ds50010--------
    rs1842659211,2
    --52396533(+) TTAAAC/TACACT 2 -- ds50010--------
    rs1392951611,2
    --52396541(+) ACTATA/GAAGAA 2 -- ds50010--------
    rs1168553341,2
    F--52396561(+) CTGGGC/TGCTGT 2 -- ds50011Minor allele frequency- T:0.02NA 120
    rs72964431,2
    C,F,A--52396593(+) tacttC/Tgggag 2 -- ds50018Minor allele frequency- T:0.29NA WA CSA 14
    rs1892150631,2
    C--52396606(+) CGAGGC/TGGGCA 2 -- ds50010--------
    rs72965631,2
    C,F,A--52396653(+) caacaC/Tggtga 2 -- ds50017Minor allele frequency- T:0.33NA WA CSA 12
    rs73107951,2
    C,F,A--52396680(+) aaaatG/Acaaaa 2 -- ds50019Minor allele frequency- A:0.35NA WA CSA 17

    HapMap Linkage Disequilibrium report for KRT80 (52562780 - 52585784 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRT80:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv899086CNV Loss21882294
    nsv832409CNV Loss17160897
    dgv511e1CNV Complex17122850

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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: 611161    OMIM disorders: --

    2 diseases for KRT80:    About MalaCards
    cervix uteri carcinoma in situ    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for KRT80:
    Cervix uteri carcinoma in situ

    KRT80 for disorders           About GeneDecksing


    Export disorders for KRT80 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 KRT80 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with KRT80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    2. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PubMed id 15737194)1, 2 Rogers M.A....Schweizer J. (2005)
    3. The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (2012)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Against the rules: human keratin K80: two functional alternative splice variants, K80 and K80.1, with special cellular localization in a wide range of epithelia. (PubMed id 20843789)1 Langbein L....Schweizer J. (2010)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)

    (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: 144501 HGNC: 27056 AceView: LOC144501 Ensembl:ENSG00000167767 euGenes: HUgn144501
    ECgene: KRT80 H-InvDB: KRT80

    (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 KRT80 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 KRT80 gene:
    Search GeneIP for patents involving KRT80

    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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