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

ZNF469 Gene

protein-coding   GIFtS: 41
GCID: GC16P088493

Zinc Finger Protein 469

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

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. GO annotations related to this gene include DNA binding and zinc ion binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010542.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ZNF469

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: ZN469_HUMAN, Q96JG9 (See protein sequence)
Recommended Name: Zinc finger protein 469  
Size: 3925 amino acids; 410202 Da
Subcellular location: Nucleus (Potential)

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

Explore proteomics data for ZNF469 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96JG9

  • ZNF469 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNF469 Protein Expression
    REFSEQ proteins: NP_001120936.1  
    ENSEMBL proteins: 
     ENSP00000456500   ENSP00000402343  

    Human Recombinant Protein Products for ZNF469: 
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    Cloud-Clone Corp. Proteins for ZNF469 

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

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

    ZNF469 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 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


    ZNF469 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: ZN469_HUMAN, Q96JG9
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZNF469 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZNF469 
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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 ZNF469

    Gene Ontology (GO): 2 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--

    ZNF469 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 ZNF469 (ZN469)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    8/30 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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      QIAGEN 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™, 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

    ZNF469 expression in normal human tissues (normalized intensities)      ZNF469 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Oligodendrocyte Precursor Cells Forebrain White Matter

    See ZNF469 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF469

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF469 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm221 , 5 predicted gene 221, 5 65.87(n)1
    52.33(a)1
      8 (70.85 cM)5
    1952091  XM_111398.81  XP_111398.71 
     1222695695 
    chicken
    (Gallus gallus)
    Aves ZNF4696
    zinc finger protein 469
    29(a)
    1 ↔ 1
    11(17795544-17807462)
    lizard
    (Anolis carolinensis)
    Reptilia ZNF4696
    Uncharacterized protein
    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)
    About This Section
      --

    (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

    10/388 SNPs in ZNF469 are shown (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) 10/20 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 6 diseases for ZNF469:    About MalaCards
    brittle cornea syndrome 1    type vi ehlers-danlos syndrome    ehlers-danlos syndrome    keratoconus
    blindness    glaucoma

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

    ZNF469 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ZNF469 gene, integrated from 9 sources (see all 13):
    (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. (2001)
    2. Common genetic variants near the Brittle Cornea Syndr ome locus ZNF469 influence the blinding disease risk factor central corneal thi ckness. (PubMed id 20485516)1, 4 Lu Y....Mackey D.A. (2010)
    3. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (PubMed id 18452888)1, 2 Abu A....Pras E. (2008)
    4. Genome-wide association analyses identify multiple loc i associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (2013)
    5. 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. (2012)
    6. Identification of a novel ZNF469 mutation in a large f amily with Ehlers-Danlos phenotype. (PubMed id 23010198)1 Al-Owain M....Alkuraya F.S. (2012)
    7. 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. (2012)
    8. 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. (2011)
    9. Brittle cornea syndrome associated with a missense mu tation in the zinc-finger 469 gene. (PubMed id 19661234)1 Christensen A.E....Boman H. (2010)
    10. Blue sclera with and without corneal fragility (britt le cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E13 92X). (PubMed id 20938016)1 Khan A.O....Alkuraya F.S. (2010)

    (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: 84627 HGNC: 23216 AceView: ZNF469 Ensembl:ENSG00000225614 euGenes: HUgn84627
    ECgene: ZNF469 H-InvDB: ZNF469

    (According to HUGE)
    About This Section
    HUGE: KIAA1858

    (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 ZNF469 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 ZNF469 gene:
    Search GeneIP for patents involving ZNF469

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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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