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

Gene ID: 283120, updated on 2-Aug-2020

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

Genomic context

See H19 in Genome Data Viewer
Location:
11p15.5
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1995176..2001466, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2016406..2019065, 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
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

NHGRI GWAS Catalog

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

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
gene silencing by miRNA IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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)

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 Annotation Release 109.20200522

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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