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

    Gene ID: 283120, updated on 16-Apr-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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    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1995176..2001466, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2082853..2089143, complement)
    105.20220307 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 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. Abnormal expression pattern of lncRNA H19 participates in multiple myeloma bone disease by unbalancing osteogenesis and osteolysis. Guo N, et al. Int Immunopharmacol, 2023 Jun. PMID 37058751
    2. Long non-coding RNA H19 regulates matrisome signature and impacts cell behavior on MSC-engineered extracellular matrices. Moura SR, et al. Stem Cell Res Ther, 2023 Mar 8. PMID 36882843, Free PMC Article
    3. Long non-coding RNA (lncRNA) H19 in human cancer: From proliferation and metastasis to therapy. Hashemi M, et al. Pharmacol Res, 2022 Oct. PMID 36038043
    4. Association between long non-coding RNA H19 polymorphisms and breast cancer risk: a meta-analysis. Li L, et al. Women Health, 2022 Jul. PMID 35818166
    5. lncRNA-H19 in Fibroblasts Promotes Wound Healing in Diabetes. Yu P, et al. Diabetes, 2022 Jul 1. PMID 35472819

    See all (540) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of long noncoding RNA H19 rs2839698 C/T with hepatitis B virus infection and hepatocellular carcinoma risk.
      Title: Association of long noncoding RNA H19 rs2839698 C/T with hepatitis B virus infection and hepatocellular carcinoma risk.
    2. LncRNA H19 Inhibits Keratinocyte Cell Proliferation and Migration by Targeting miR-17-5p/RUNX1 Axis in Chronic Wounds.
      Title: LncRNA H19 Inhibits Keratinocyte Cell Proliferation and Migration by Targeting miR-17-5p/RUNX1 Axis in Chronic Wounds.
    3. Association Between rs217727 and rs2839698 H19 Polymorphisms and Obesity.
      Title: Association Between rs217727 and rs2839698 H19 Polymorphisms and Obesity.
    4. The emerging roles of long non-coding RNA (lncRNA) H19 in gynecologic cancers.
      Title: The emerging roles of long non-coding RNA (lncRNA) H19 in gynecologic cancers.
    5. Extracellular vesicles released by hypoxia-induced tumor-associated fibroblasts impart chemoresistance to breast cancer cells via long noncoding RNA H19 delivery.
      Title: Extracellular vesicles released by hypoxia-induced tumor-associated fibroblasts impart chemoresistance to breast cancer cells via long noncoding RNA H19 delivery.
    6. H19: An Oncogenic Long Non-coding RNA in Colorectal Cancer.
      Title: H19: An Oncogenic Long Non-coding RNA in Colorectal Cancer.
    7. Long Non-coding RNA Genes Polymorphisms H19 (rs2251375) and MALAT1 (rs3200401) Association with Rheumatoid Arthritis and Their Correlation with Disease Activity in a Cohort of Egyptian Patients: A Pilot Study.
      Title: Long Non-coding RNA Genes Polymorphisms H19 (rs2251375) and MALAT1 (rs3200401) Association with Rheumatoid Arthritis and Their Correlation with Disease Activity in a Cohort of Egyptian Patients: A Pilot Study.
    8. [Effects and mechanism of knocking down lncRNA H19 to inhibit lipid accumulation in human THP-1 cells-derived macrophages].
      Title: [Effects and mechanism of knocking down lncRNA H19 to inhibit lipid accumulation in human THP-1 cells-derived macrophages].
    9. H19 encourages aerobic glycolysis and cell growth in gastric cancer cells through the axis of microRNA-19a-3p and phosphoglycerate kinase 1.
      Title: H19 encourages aerobic glycolysis and cell growth in gastric cancer cells through the axis of microRNA-19a-3p and phosphoglycerate kinase 1.
    10. LncRNA H19 aggravates primary graft dysfunction after lung transplantation via KLF5-mediated activation of CCL28.
      Title: LncRNA H19 aggravates primary graft dysfunction after lung transplantation via KLF5-mediated activation of CCL28.
    Submit: New GeneRIF Correction See all GeneRIFs (530)

    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)

    Genotypes

    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

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC051649
      Related
      ENST00000414790.9

    2. NR_131223.2 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)
      AC051649
      Related
      ENST00000412788.6

    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
      Related
      ENST00000428066.8

    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
      ENST00000439725.6

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2082853..2089143 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.

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