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LOC105274310 H19/IGF2 enhancer region [ Homo sapiens (human) ]

Gene ID: 105274310, updated on 13-Mar-2024

Summary

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Gene symbol
LOC105274310
Gene description
H19/IGF2 enhancer region
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents an enhancer region that can regulate expression of both the non-coding H19 gene and the gene encoding insulin-like growth factor 2 (IGF2). These genes, which are located in a head-to-tail arrangement in opposite orientations, have imprinted expression patterns, where the H19 gene is expressed only from the maternal allele, and the IGF2 gene is expressed only from the paternal allele. This enhancer region is located downstream of the H19 gene. On the maternal allele, the ability of this enhancer region to regulate the more distal IGF2 gene is blocked by an imprinting control region (ICR), which is located between the H19 and IGF2 genes. On the paternal allele, the enhancer-blocking function of the ICR is disabled via DNA methylation, thus allowing this enhancer region to activate the IGF2 gene. Mutations in this enhancer region are associated with Silver-Russell syndrome and growth retardation. [provided by RefSeq, Feb 2015]
Orthologs
mouse all
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Genomic context

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Location:
11p15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1986890..1991809)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2074547..2079482)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2008120..2013039)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:1956346-1956534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1956988-1957585 Neighboring gene troponin T3, fast skeletal type Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1970491-1971228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1979269-1980047 Neighboring gene small nucleolar RNA, C/D box 131 Neighboring gene VISTA enhancer hs1488 Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2003101-2003870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2004639-2005408 Neighboring gene MRPL23 antisense RNA 1 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 H19/IGF2 imprinting control region 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 INS-IGF2 readthrough Neighboring gene microRNA 483 Neighboring gene insulin like growth factor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The expression of the H19 gene and its function in human bladder carcinoma cell lines. Ohana P, et al. FEBS Lett, 1999 Jul 2. PMID 10413100
  2. The effect of retinoic acid on the activation of the human H19 promoter by a 3' downstream region. Kopf E, et al. FEBS Lett, 1998 Aug 7. PMID 9720909
  3. A novel large deletion of the ICR1 region including H19 and putative enhancer elements. Fryssira H, et al. BMC Med Genet, 2015 May 6. PMID 25943194, Free PMC Article
  4. Induced DNA demethylation can reshape chromatin topology at the IGF2-H19 locus. Ito Y, et al. Nucleic Acids Res, 2013 May 1. PMID 23585276, Free PMC Article
  5. Characterization of human and mouse H19 regulatory sequences. Banet G, et al. Mol Biol Rep, 2000 Sep. PMID 11254105

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

Other Names

  • H19 3' enhancer region

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_042039.1 

    Range
    101..5020
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    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

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    1986890..1991809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p14 PATCHES

    Range
    179412..184331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    2074547..2079482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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