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

    Gene ID: 283120, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:4713
    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
    mouse all
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    Genomic context

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    See H19 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1995176..2001266, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2082853..2088943, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2016406..2022496, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2004639-2005408 Neighboring gene H19/IGF2 enhancer region 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 H19/IGF2 imprinting control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2034666-2035394 Neighboring gene microRNA 675 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Long noncoding RNA H19 is up-regulated in esophageal squamous cell carcinoma and promotes cell proliferation and metastasis. Tan D, et al. Dis Esophagus, 2017 Jan 1. PMID 27247022
    2. The prognostic value of long non-coding RNA H19 in various cancers: A meta-analysis based on 15 studies with 1584 patients and the Cancer Genome Atlas data. Yu H, et al. Medicine (Baltimore), 2020 Jan. PMID 31914026, Free PMC Article
    3. Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. Li S, et al. Oncotarget, 2016 May 3. PMID 27027436, Free PMC Article
    4. Association between lncRNA H19 polymorphisms and cancer susceptibility based on a meta-analysis from 25 studies. Liu C, et al. Gene, 2020 Mar 1. PMID 31884107
    5. LncRNA H19 functions as a competing endogenous RNA to regulate AQP3 expression by sponging miR-874 in the intestinal barrier. Su Z, et al. FEBS Lett, 2016 May. PMID 27059301

    See all (570) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA H19 accelerates renal fibrosis by negatively regulating the let-7b-5p/TGF-betaR1/COL1A1 axis.
      Title: LncRNA H19 accelerates renal fibrosis by negatively regulating the let-7b-5p/TGF-βR1/COL1A1 axis.
    2. Gene Expression Profiling Regulated by lncRNA H19 Using Bioinformatic Analyses in Glioma Cell Lines.
      Title: Gene Expression Profiling Regulated by lncRNA H19 Using Bioinformatic Analyses in Glioma Cell Lines.
    3. H19 lncRNA triggers ferroptosis, exacerbating ox-LDL-induced artery endothelial cell damage in vitro.
      Title: H19 lncRNA triggers ferroptosis, exacerbating ox-LDL-induced artery endothelial cell damage in vitro.
    4. LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis.
      Title: LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis.
    5. Long non-coding RNA H19X as a regulator of mononuclear cell adhesion to the endothelium in systemic sclerosis.
      Title: Long non-coding RNA H19X as a regulator of mononuclear cell adhesion to the endothelium in systemic sclerosis.
    6. LncRNA H19 Participates in Leukemia Inhibitory Factor Mediated Stemness Promotion in Colorectal Cancer Cells.
      Title: LncRNA H19 Participates in Leukemia Inhibitory Factor Mediated Stemness Promotion in Colorectal Cancer Cells.
    7. NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues.
      Title: NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues.
    8. Emerging roles of long noncoding RNA H19 in human lung cancer.
      Title: Emerging roles of long noncoding RNA H19 in human lung cancer.
    9. Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study.
      Title: Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study.
    10. Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis.
      Title: Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis.
    Submit: New GeneRIF Correction See all GeneRIFs (545)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Wilms tumor 1
    MedGen: CN033288 OMIM: 194070 GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder
    		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

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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)

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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_016165.1 RefSeqGene

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

    RNA

    1. NR_002196.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENST00000414790.10

    2. NR_131223.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENST00000412788.6

    3. NR_131224.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649, AC123789
      Related
      ENST00000710491.1

    4. NR_185828.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649

    5. NR_185829.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENST00000439725.7

    6. NR_185830.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENST00000417089.7

    7. NR_185831.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENST00000442037.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      1995176..2001266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p14 PATCHES

      Range
      187698..193788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2082853..2088943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials