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

ZNF592 Gene

protein-coding   GIFtS: 51
GCID: GC15P085291

Zinc Finger Protein 592

(Previous names: spinocerebellar ataxia, autosomal recessive 5)
(Previous symbol: SCAR5)
  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
Zinc Finger Protein 5921 2
SCAR51 2 5
CAMOS2 5
KIAA02113 5
Spinocerebellar Ataxia, Autosomal Recessive 51

External Ids:    HGNC: 289861   Entrez Gene: 96402   Ensembl: ENSG000001667167   OMIM: 6136245   UniProtKB: Q926103   

Export aliases for ZNF592 gene to outside databases

Previous GC identifers: GC15P083022 GC15P083092 GC15P061393


(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 ZNF592 Gene:
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in
cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar
ataxia. (provided by RefSeq, Jan 2011)

GeneCards Summary for ZNF592 Gene: 
ZNF592 (zinc finger protein 592) is a protein-coding gene. Diseases associated with ZNF592 include spinocerebellar ataxia autosomal recessive 5, and spinocerebellar ataxia. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is ZNF687.

UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610
Function: May be involved in transcriptional regulation




(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_000015.9  NT_010274.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZNF592 gene promoter:
         USF1   Tal-1   USF2   STAT5A   USF-1:USF-2   HNF-4alpha1   E47   CP2   USF-1   Msx-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ZNF592

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF592


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

Entrez Gene cytogenetic band: 15q25.3   Ensembl cytogenetic band:  15q25.3   HGNC cytogenetic band: 15q25.2

ZNF592 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF592 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P085291:  view genomic region     (about GC identifiers)

Start:
85,291,818 bp from pter      End:
85,349,663 bp from pter
Size:
57,846 bases      Orientation:
plus 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: ZN592_HUMAN, Q92610 (See protein sequence)
Recommended Name: Zinc finger protein 592  
Size: 1267 amino acids; 137528 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAA13202.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2M1T2 Q504Y9

Explore the universe of human proteins at neXtProt for ZNF592: NX_Q92610

Explore proteomics data for ZNF592 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92610

  • ZNF592 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNF592 Protein Expression
    REFSEQ proteins: NP_055445.2  
    ENSEMBL proteins: 
     ENSP00000452877   ENSP00000453491   ENSP00000299927  

    Human Recombinant Protein Products for ZNF592: 
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    Cloud-Clone Corp. Proteins for ZNF592 

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

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

    ZNF592 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: 
    ZNF: Zinc fingers, C2H2-type

    2 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q92610

    ProtoNet protein and cluster: Q92610

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 13 C2H2-type zinc fingers


    ZNF592 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: ZN592_HUMAN, Q92610
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZNF592 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZNF592:
     Synthetic lethal with c-Myc af 

    Animal Models:
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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 ZNF592

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/9 Interacting proteins for ZNF592 (Q926102, 3 ENSP000002999274) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62128 I2D: score=3 
    INTS5Q6P9B93, ENSP000003278894I2D: score=1 STRING: ENSP00000327889
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    INTS3Q68E013, ENSP000003186414I2D: score=1 STRING: ENSP00000318641
    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:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0008219cell death IEA--

    ZNF592 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 ZNF592 (ZN592)

    Search CenterWatch for drugs/clinical trials and news about ZNF592 / ZN592

    (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 ZNF592 gene: 
    NM_014630.2  

    Unigene Cluster for ZNF592:

    Zinc finger protein 592
    Hs.79347  [show with all ESTs]
    Unigene Representative Sequence: NM_014630
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560079 ENST00000559607 ENST00000299927(uc002bld.3 uc010upb.2)

    miRNA
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    Additional mRNA sequence: 

    AK090507.1 BC040038.1 BC094688.1 BC112232.1 BC112234.1 BC143600.1 D86966.1 

    9 DOTS entries:

    DT.100022507  DT.445822  DT.100782552  DT.121096142  DT.442219  DT.95375528  DT.121036820  DT.121036892 
    DT.95273996 

    24/175 AceView cDNA sequences (see all 175):

    BM128585 BX495795 F12427 BG742377 BG177192 BQ222455 AI359484 BE883736 
    D86966 AW169357 BM711452 AA039358 BQ878756 T34974 F29857 AI571121 
    F10045 CR590370 BF589169 CD514187 BU786070 AA368478 BM703507 BU622050 

    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

    ZNF592 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ZNF592 Expression
    About this image


    See ZNF592 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF592

    SOURCE GeneReport for Unigene cluster: Hs.79347

    UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610
    Tissue specificity: Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central
    nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia
    nigra. Widely expressed in fetal tissues

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    In Situ
    Assay Products:
     

     
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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 ZNF592 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zfp5921 , 5 zinc finger protein 5921, 5 87.37(n)1
    88.32(a)1
      7 (45.71 cM)5
    2334101  NM_178707.41  NP_848822.21 
     809936815 
    chicken
    (Gallus gallus)
    Aves ZNF5921 zinc finger protein 592 65.28(n)
    61.97(a)
      415335  XM_413721.3  XP_413721.3 
    lizard
    (Anolis carolinensis)
    Reptilia ZNF5926
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343490.1(185774-201589)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689362 hypothetical protein MGC68936 74.24(n)    BC059302.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj94a042 Transcribed sequence with weak similarity to protein more 71.1(n)    BM157071.1 


    ENSEMBL Gene Tree for ZNF592 (if available)
    TreeFam Gene Tree for ZNF592 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF592 gene
    ZNF6872  ZNF5322  
    1 SIMAP similar gene for ZNF592 using alignment to 3 protein entries:     ZN592_HUMAN (see all proteins):
    ZNF532

    ZNF592 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZNF592
    PGOHUM00000234975


    (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

    10/1276 SNPs in ZNF592 are shown (see all 1276)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0645834
    Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5)4--see VAR_0645832 G R mis40--------
    rs1508293931,2
    C,Fpathogenic185342440(+) CCTGCG/AGGTGA 2 /R /G mis12Minor allele frequency- A:0.00NA EU 5629
    rs1389668301,2
    Cuntested185326939(+) TCAAGA/C/TCATCG 2 P S mis11EU 1271
    rs358052751,2
    C--85289821(+) TTAGG-/AAAAAA 1 -- us2k10--------
    rs1472181211,2
    --85289846(+) CGGCCA/GGGCAT 1 -- us2k10--------
    rs1406785651,2
    C--85289921(+) GAGTTC/TGAGAC 1 -- us2k10--------
    rs1903506771,2
    --85289992(+) GCGGTG/TGCTCA 1 -- us2k10--------
    rs1492411171,2
    --85290019(+) ACTTTC/TGGAGG 1 -- us2k10--------
    rs611253941,2
    C--85290020(+) CTTTCC/GGAGGC 1 -- us2k12Minor allele frequency- G:0.25WA NA 4
    rs1827529471,2
    C--85290128(+) GGTGGC/TGCATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ZNF592 (85291818 - 85349663 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ZNF592:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672879CNV Deletion23128226
    esv29903CNV Loss19812545
    nsv517833CNV Gain19592680
    dgv770e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ZNF592
    SABiosciences Cancer Mutation PCR Assays
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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: 613624   
    OMIM disorders: 606937  
    UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610
  • Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5) [MIM:606937]: Spinocerebellar ataxia defines a
    clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination
    of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum
    with variable involvement of the brainstem and spinal cord. SCAR5 patients show developmental delay, psychomotor
    retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect,
    abnormal osmiophilic pattern of skin vessels and cerebellar atrophy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for ZNF592:    About MalaCards
    spinocerebellar ataxia autosomal recessive 5    spinocerebellar ataxia    ataxia    optic atrophy
    cerebellar ataxia    microcephaly    short stature    spasticity
    mental retardation    hepatocellular carcinoma


    ZNF592 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZNF592
    Human Genome Epidemiology (HuGE) Navigator: ZNF592 (1 document)

    Export disorders for ZNF592 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 ZNF592 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with ZNF592)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CAMOS, a nonprogressive, autosomal recessive, congeni tal cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. (PubMed id 20531441)1, 2, 3 Nicolas E....Delague V. (2010)
    2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T....Nomura N. (1996)
    3. Genome-wide association study identifies GPC5 as a no vel genetic locus protective against sudden cardiac arrest. (PubMed id 20360844)1, 4 Arking D.E....Chugh S.S. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    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. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. (PubMed id 12030328)1, 3 Delague V....Claustres M. (2002)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    9. Genome-wide association analysis of age-at-onset in Al zheimer's disease. (PubMed id 22005931)1 Kamboh M.I....Lopez O.L. (2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (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: 9640 HGNC: 28986 AceView: ZNF592 Ensembl:ENSG00000166716 euGenes: HUgn9640
    ECgene: ZNF592 H-InvDB: ZNF592

    (According to HUGE)
    About This Section
    HUGE: KIAA0211

    (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 ZNF592 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 ZNF592 gene:
    Search GeneIP for patents involving ZNF592

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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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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