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    H19 H19 imprinted maternally expressed transcript [ Homo sapiens (human) ]

    Gene ID: 283120, updated on 26-Jul-2021

    Summary

    Official Symbol
    H19provided by HGNC
    Official Full Name
    H19 imprinted maternally expressed transcriptprovided by HGNC
    Primary source
    HGNC:HGNC:4713
    See related
    Ensembl:ENSG00000130600 MIM:103280
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASM; BWS; WT2; ASM1; D11S813E; MIR675HG; LINC00008; NCRNA00008
    Summary
    This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in placenta (RPKM 2773.7), adrenal (RPKM 234.1) and 2 other tissues See more
    Orthologs
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    Genomic context

    See H19 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1995176..2001466, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2016406..2022696, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 enhancer region Neighboring gene MRPL23 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 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

    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
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    GeneReviews: Not available
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    GeneReviews: Not available
    Wilms tumor 1 Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-03-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-03-22)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Other Names

    • H19, imprinted maternally expressed transcript (non-protein coding)
    • H19, imprinted maternally expressed untranslated mRNA
    • MIR675 host
    • adult skeletal muscle
    • long intergenic non-protein coding RNA 8

    Clone Names

    • MGC4485

    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_016165.1 RefSeqGene

      Range
      4961..7660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1030

    RNA

    1. NR_002196.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      BC040073, DA443982
      Related
      ENST00000414790.6
    2. NR_131223.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, resulting in a shorter transcript than variant 1.
      Source sequence(s)
      BC040073, BC063564, BE730693, DA443982
      Related
      ENST00000412788.5
    3. NR_131224.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' terminal exon, resulting in a shorter transcript than variant 1.
      Source sequence(s)
      AC123789, BC040073, CN424819

    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
      1995176..2001466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p13 PATCHES

      Range
      187698..193988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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