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

    Gene ID: 105259599, updated on 10-Oct-2023


    Gene symbol
    Gene description
    H19/IGF2 imprinting control region
    Primary source
    Gene type
    biological region
    Feature type(s)
    regulatory: enhancer, enhancer_blocking_element, imprinting_control_region
    RefSeq status
    Homo sapiens
    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
    This region includes 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. Four subregions were shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where all are marked by the H3K27ac and H3K4me1 histone modifications, with three being additionally associated with the NANOG transcription factor and two are also associated with OCT4. Mutations in this genomic region 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, Nov 2022]
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    Genomic context

    See H19-ICR in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1998202..2003509)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2085879..2091186)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2018584-2019431 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2034666-2035394 Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2118490-2119132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2121061-2121703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2121704-2122345 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2135598-2135868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2148496-2149320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2155593-2156179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2158413-2159034 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


    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Other Names

    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2019432-2020280
    • ICR1 differentially methylated region
    • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2020281-2021127
    • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2021977-2022824
    • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2022825-2023672
    • 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.


    1. NG_041945.2 

      GenBank, FASTA, Sequence Viewer (Graphics)

    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


    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES


    1. NW_021160004.1 Reference GRCh38.p14 PATCHES

      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0


    1. NC_060935.1 Alternate T2T-CHM13v2.0

      GenBank, FASTA, Sequence Viewer (Graphics)