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    H19-ICR H19/IGF2 imprinting control region [ Homo sapiens (human) ]

    Gene ID: 105259599, updated on 19-Jun-2021

    Summary

    Gene symbol
    H19-ICR
    Gene description
    H19/IGF2 imprinting control region
    Primary source
    MIM:616186
    Gene type
    biological region
    Feature type(s)
    protein_bind
    regulatory: enhancer_blocking_element, imprinting_control_region
    repeat_region
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BWS; IC1; WT2; ICR1; SRS1; H19-DMD; ICR1-DMR
    Summary
    This region represents a methylation-sensitive enhancer-blocking element that controls imprinted expression of the non-coding H19 gene and the gene encoding insulin-like growth factor 2 (IGF2). These neighboring genes exist in a head-to-tail arrangement in opposite orientations and share an enhancer, but the H19 gene is only expressed from the maternal allele, while the IGF2 gene is only expressed from the paternal allele. This element, which is a differentially methylated region (DMR), is located just upstream of the H19 gene. It is unmethylated on the maternal allele, which permits binding of the CTCF protein, and it can thus function as an enhancer-blocking element to prevent activation of IGF2 by the enhancer, thereby allowing H19 activation. However, it is methylated on the paternal allele and CTCF cannot bind, thus allowing the enhancer to activate the IGF2 gene, and the H19 gene is silenced. This DMR includes multiple direct repeat units and seven CTCF-binding sites. Mutations in this element are a cause of Wilms tumor, and also Beckwith-Wiedemann syndrome through either a gain or loss of methylation. This element has also been implicated in dysregulated H19-IGF2 imprinting found in osteosarcoma and in Silver-Russell syndrome. [provided by RefSeq, Feb 2015]
    Orthologs
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    Genomic context

    See H19-ICR in Genome Data Viewer
    Location:
    11p15.5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1998745..2003509)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2019975..2024739)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 enhancer region Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene INS-IGF2 readthrough Neighboring gene microRNA 483 Neighboring gene insulin like growth factor 2 Neighboring gene IGF2 antisense RNA

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Homology

    Other Names

    • ICR1 differentially methylated region
    • imprinting center 1

    NCBI Reference Sequences (RefSeq)

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    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_041945.1 

      Range
      101..4865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      1998745..2003509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p13 PATCHES

      Range
      191267..196031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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