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    ZNF469 zinc finger protein 469 [ Homo sapiens (human) ]

    Gene ID: 84627, updated on 20-Jun-2015
    Official Symbol
    ZNF469provided by HGNC
    Official Full Name
    zinc finger protein 469provided by HGNC
    Primary source
    HGNC:HGNC:23216
    See related
    Ensembl:ENSG00000225614; MIM:612078
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCS; BCS1
    Summary
    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]
    Orthologs
    See ZNF469 in Epigenomics, MapViewer
    Location:
    16q24
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (88233015..88440757)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88493879..88507165)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371401 Neighboring gene uncharacterized LOC101928880 Neighboring gene uncharacterized LOC105376779 Neighboring gene zinc finger protein, FOG family member 1 Neighboring gene microRNA 5189 Neighboring gene uncharacterized LOC100128882

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
    MedGen: C0268344 OMIM: 229200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
    NHGRI GWA Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    NHGRI GWA Catalog
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    NHGRI GWA Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog
    Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
    NHGRI GWA Catalog

    Markers

    Clone Names

    • KIAA1858

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    zinc finger protein 469
    Names
    zinc finger protein 469

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012236.2 RefSeqGene

      Range
      5001..18287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127464.2NP_001120936.2  zinc finger protein 469

      Status: REVIEWED

      Source sequence(s)
      AC135049, KF456226
      Consensus CDS
      CCDS45544.1
      Related
      ENSP00000402343, ENST00000437464
      Conserved Domains (1) summary
      PHA03247
      Location:2422
      PHA03247; large tegument protein UL36; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      88233015..88440757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523386.1XP_011521688.1  

      See identical proteins and their annotated locations for XP_011521688.1

      Conserved Domains (2) summary
      PHA03247
      Location:2422
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:33393359
      ZF_C2H2; Zn binding site [ion binding]
    2. XM_011523388.1XP_011521690.1  

      See identical proteins and their annotated locations for XP_011521690.1

      Conserved Domains (2) summary
      PHA03247
      Location:2422
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:33393359
      ZF_C2H2; Zn binding site [ion binding]
    3. XM_011523387.1XP_011521689.1  

      See identical proteins and their annotated locations for XP_011521689.1

      Conserved Domains (2) summary
      PHA03247
      Location:2422
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:33393359
      ZF_C2H2; Zn binding site [ion binding]

    RNA

    1. XR_933463.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      89905133..89918418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)