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

    Gene ID: 84627, updated on 5-Mar-2024

    Summary

    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; AllianceGenome:HGNC:23216
    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; Zfp469
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 1.0), endometrium (RPKM 0.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZNF469 in Genome Data Viewer
    Location:
    16q24.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88100931..88440753)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94449769..94508741)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88449367..88507161)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11345 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87984965-87985607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87990141-87991083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88000587-88001090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88008279-88008799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88016725-88017317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88033523-88034377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88034378-88035231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88039157-88039702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88039703-88040246 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:88042179-88042892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:88042893-88043606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88046491-88047404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88047405-88048317 Neighboring gene BTG3 associated nuclear protein Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88058223-88058469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88060746-88061316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88064237-88064738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88069223-88069723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88078499-88079000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88096566-88097334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88098057-88098732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88099409-88100084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11349 Neighboring gene uncharacterized LOC124903754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88123859-88124486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88126373-88127000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88146853-88147354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88147355-88147854 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:88150297-88151496 Neighboring gene uncharacterized LOC400553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88181294-88181921 Neighboring gene uncharacterized LOC105371401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88220489-88221296 Neighboring gene Sharpr-MPRA regulatory region 11460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88228172-88228704 Neighboring gene long intergenic non-protein coding RNA 2182 Neighboring gene Sharpr-MPRA regulatory region 6305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88275942-88276442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88292312-88293058 Neighboring gene uncharacterized LOC124900374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88294229-88295094 Neighboring gene uncharacterized LOC107984862 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88298191-88299390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88305120-88305626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88308260-88309065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88337429-88337930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88338969-88339468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88342417-88342918 Neighboring gene Sharpr-MPRA regulatory region 14328 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88366225-88367424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88383362-88384329 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88448183-88448726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88447094-88447638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88463994-88464796 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:88476410-88477609 Neighboring gene uncharacterized LOC112268182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88499412-88499912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88509531-88510396 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88513905-88514141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11352 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88526556-88527059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88528211-88529126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88544251-88545176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88545177-88546101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88546568-88547068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88547069-88547569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88550149-88550654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88549643-88550148 Neighboring gene uncharacterized LOC107984890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88574841-88575346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88576357-88576860 Neighboring gene microRNA 5189 Neighboring gene zinc finger protein, FOG family member 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Brittle cornea syndrome 1
    MedGen: C0268344 OMIM: 229200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..18283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001367624.2NP_001354553.1  zinc finger protein 469

      Status: REVIEWED

      Source sequence(s)
      AC132804, AC135049, KF456226
      Consensus CDS
      CCDS92205.1
      UniProtKB/Swiss-Prot
      H3BS19, Q96JG9
      Related
      ENSP00000456500.2, ENST00000565624.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88100931..88440753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434810.1XP_047290766.1  zinc finger protein 469 isoform X1

      UniProtKB/Swiss-Prot
      H3BS19, Q96JG9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94449769..94508741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314200.1XP_054170175.1  zinc finger protein 469 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001127464.2: Suppressed sequence

      Description
      NM_001127464.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.