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ZNF469 Gene

protein-coding   GIFtS: 42
GCID: GC16P088493

Zinc Finger Protein 469

  See ZNF469-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)
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Aliases
Zinc Finger Protein 4691 2
BCS2 5
KIAA18583 5

External Ids:    HGNC: 232161   Entrez Gene: 846272   Ensembl: ENSG000002256147   OMIM: 6120785   UniProtKB: Q96JG93   

Export aliases for ZNF469 gene to outside databases

Previous GC identifers: GC16P088240 GC16P087021 GC16P074187


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZNF469 Gene:
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function
as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers.
Mutations in this gene cause brittle cornea syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZNF469 Gene:
ZNF469 (zinc finger protein 469) is a protein-coding gene. Diseases associated with ZNF469 include brittle cornea syndrome 1, and type vi ehlers-danlos syndrome.

UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF469 gene promoter:
         Max1   ER-alpha   RFX1   LHX3b/Lhx3b   Lmo2   Olf-1   XBP-1   AP-4   STAT3   LHX3a/Lhx3a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ZNF469

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF469


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

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24

ZNF469 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF469 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P088493:  view genomic region     (about GC identifiers)

Start:
88,493,879 bp from pter      End:
88,507,165 bp from pter
Size:
13,287 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9 (See protein sequence)
Recommended Name: Zinc finger protein 469  
Size: 3925 amino acids; 410202 Da

Explore the universe of human proteins at neXtProt for ZNF469: NX_Q96JG9

Explore proteomics data for ZNF469 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZNF469 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001120936.1  
    ENSEMBL proteins: 
     ENSP00000456500   ENSP00000402343  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 Q96JG9

    ProtoNet protein and cluster: Q96JG9

    UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    Find genes that share domains with ZNF469           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZN469_HUMAN, Q96JG9
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZNF469           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ZNF469:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZNF469
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZN469_HUMAN, Q96JG9: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with ZNF469           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF469
    Interactions:

        Search GeneGlobe Interaction Network for ZNF469

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with ZNF469           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZNF469 (ZN469)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZNF469 gene: 
    NM_001127464.1  

    Unigene Cluster for ZNF469:

    Zinc finger protein 469
    Hs.54925  [show with all ESTs]
    Unigene Representative Sequence: NM_001127464
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565624 ENST00000437464(uc002fku.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ZNF469 (see all 30):
    hsa-miR-323-3p hsa-miR-25 hsa-miR-29c hsa-miR-29a hsa-miR-4263 hsa-miR-371-5p hsa-miR-1297 hsa-miR-373*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ZNF469

    Additional mRNA sequence: AB058761.2 

    2 DOTS entries:

    DT.109009  DT.97800833 

    1 AceView cDNA sequence:

    BI871193 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZNF469 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ZNF469 Expression
    About this image


    ZNF469 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Oligodendrocyte Precursor Cells Forebrain White Matter
    ZNF469 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZNF469 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54925

    UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9
    Tissue specificity: Detected in cornea, sclera, skin fibroblasts and striated muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF469

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF469 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm221 , 5 predicted gene 221, 5 65.62(n)1
    52.08(a)1
      8 (70.85 cM)5
    1952091  XM_006531558.11  XP_006531621.11 
     1222695695 
    chicken
    (Gallus gallus)
    Aves ZNF4696
    zinc finger protein 469
    27(a)
    1 ↔ 1
    11(17795544-17807462)
    lizard
    (Anolis carolinensis)
    Reptilia ZNF4696
    zinc finger protein 469
    26(a)
    1 ↔ 1
    AAWZ02036545(7906-18207)


    ENSEMBL Gene Tree for ZNF469 (if available)
    TreeFam Gene Tree for ZNF469 (if available)

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

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZNF469 (see all 388)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2735856181,2
    Cuntested188496577(+) GCCCCC/G/TGCTCC 3 P R L mis10--------
    rs2735856281,2
    Cuntested188504451(+) GGCCCA/GAGACC 2 K E mis10--------
    rs1996059111,2
    --88491893(+) AGGGC-/TAGGAG 1 -- us2k10--------
    rs746363921,2
    C,F--88491937(+) GACCTC/TGCCTA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1828969561,2
    --88492009(+) TTCAGA/GGCGAC 1 -- us2k10--------
    rs1445306111,2
    C--88492220(+) CTCAGA/TGGTGG 1 -- us2k10--------
    rs732536531,2
    C,F--88492275(+) TCTTTT/CTGGTG 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs1152757301,2
    C,F--88492408(+) TACAGG/ATACCA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1174193141,2
    C,F--88492487(+) AACTCC/TGGGAG 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs583233251,2
    C,F--88492488(+) ACTCCG/AGGAGG 1 -- us2k12Minor allele frequency- A:0.05WA 120

    HapMap Linkage Disequilibrium report for ZNF469 (88493879 - 88507165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ZNF469 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv171n21CNV Loss19592680
    nsv907251CNV Loss21882294
    dgv2971n71CNV Loss21882294
    nsv907226CNV Loss21882294
    dgv2972n71CNV Loss21882294
    dgv2968n71CNV Loss21882294
    nsv528456CNV Loss19592680
    nsv907255CNV Loss21882294
    nsv907223CNV Loss21882294
    dgv2970n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ZNF469
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ZNF469
    DNA2.0 Custom Variant and Variant Library Synthesis for ZNF469

    (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.)
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    OMIM gene information: 612078   
    OMIM disorders: 229200  
    UniProtKB/Swiss-Prot: ZN469_HUMAN, Q96JG9
  • Brittle cornea syndrome 1 (BCS1) [MIM:229200]: A disorder characterized by extreme corneal thinning
    resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of
    the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular
    form of Ehlers-Danlos syndrome (EDS6). Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 2 diseases for ZNF469:    
    About MalaCards
    brittle cornea syndrome 1    type vi ehlers-danlos syndrome

    3 diseases from the University of Copenhagen DISEASES database for ZNF469:
    Ehlers-Danlos syndrome     Keratoconus     Glaucoma

    Find genes that share disorders with ZNF469           About GenesLikeMe

    Genetic Association Database (GAD): ZNF469
    Human Genome Epidemiology (HuGE) Navigator: ZNF469 (2 documents)

    Export disorders for ZNF469 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)
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    PubMed articles for ZNF469 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with ZNF469)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    2. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. (PubMed id 20485516)1, 4 Lu Y....Mackey D.A. (PLoS Genet. 2010)
    3. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (PubMed id 18452888)1, 2 Abu A....Pras E. (Am. J. Hum. Genet. 2008)
    4. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (Nat. Genet. 2013)
    5. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. (PubMed id 23680354)1 Rohrbach M....Giunta C. (Mol. Genet. Metab. 2013)
    6. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PubMed id 24144296)1 Cheng C.Y....Baird P.N. (Am. J. Hum. Genet. 2013)
    7. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. (PubMed id 22486320)1 Khan A.O....Alkuraya F.S. (Ophthalmic Genet. 2012)
    8. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. (PubMed id 23010198)1 Al-Owain M....Alkuraya F.S. (Gene 2012)
    9. Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. (PubMed id 22814818)1 Hoehn R....Mirshahi A. (Hum. Genet. 2012)
    10. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. (PubMed id 21664999)1 Burkitt Wright E.M....Black G.C. (Am. J. Hum. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 84627 HGNC: 23216 AceView: ZNF469 Ensembl:ENSG00000225614 euGenes: HUgn84627
    ECgene: ZNF469 H-InvDB: ZNF469

    (According to HUGE)
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    HUGE: KIAA1858

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZNF469 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZNF469 gene:
    Search GeneIP for patents involving ZNF469

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