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

Gene ID: 283120, updated on 2-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
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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 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 non-coding RNA H19 can predict a poor prognosis and lymph node metastasis: a meta-analysis in human cancer. Chen T, et al. Minerva Med, 2016 Aug. PMID 27348443
  2. 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
  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. 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
  5. Quantitative assessment of lncRNA H19 polymorphisms and cancer risk: a meta-analysis based on 48,166 subjects. Liu X, et al. Artif Cells Nanomed Biotechnol, 2020 Dec. PMID 31852249

See all (568) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Emerging roles of long noncoding RNA H19 in human lung cancer.
    Title: Emerging roles of long noncoding RNA H19 in human lung cancer.
  7. 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.
  8. 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.
  9. Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
    Title: Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
  10. [Knock-down of long noncoding RNA H19 (lncRNA H19) promotes human colorectal cell autophagy and inhibits cell apoptosis induced by lipopolysaccharide].
    Title: [Knock-down of long noncoding RNA H19 (lncRNA H19) promotes human colorectal cell autophagy and inhibits cell apoptosis induced by lipopolysaccharide].
Submit: New GeneRIF Correction See all GeneRIFs (543)

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

    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

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Chemical Information
Medical
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