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H19 H19, imprinted maternally expressed transcript (non-protein coding) [ Homo sapiens (human) ]

Gene ID: 283120, updated on 26-Aug-2014
Official Symbol
H19provided by HGNC
Official Full Name
H19, imprinted maternally expressed transcript (non-protein coding)provided by HGNC
Primary source
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; PRO2605; D11S813E; LINC00008; NCRNA00008
Summary
This gene expresses a non-coding RNA, and functions as a tumor suppressor. The gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. Expression of this gene and IGF2 are imprinted so that this gene is only expressed from the maternally-inherited chromosome, and IGF2 is only expressed from the paternally-inherited chromosome. A region of paternal-specific methylation upstream of this gene is required for the imprinting of these genes. Mutations in this gene are associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. [provided by RefSeq, Mar 2009]
Location:
11p15.5
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (1995176..1997835, 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 putative uncharacterized protein FLJ44967-like Neighboring gene MRPL23 antisense RNA 1 Neighboring gene microRNA 675 Neighboring gene INS-IGF2 readthrough Neighboring gene insulin-like growth factor 2 (somatomedin A) Neighboring gene microRNA 483 Neighboring gene IGF2 antisense RNA

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Beckwith-Wiedemann syndrome
MedGen: C0004903 OMIM: 130650 GeneReviews: Beckwith-Wiedemann Syndrome
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Russell-Silver syndrome
MedGen: C0175693 OMIM: 180860 GeneReviews: Russell-Silver Syndrome
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Wilms tumor 2
MedGen: C0694899 OMIM: 194071 GeneReviews: Wilms Tumor Overview
not available
Wilms' tumor
MedGen: C0027708 OMIM: 194070 GeneReviews: Aniridia, Wilms Tumor Overview
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Copy number response

Description
Copy number response
Haploinsufficency

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

ISCA Genome Curation Page
Triplosensitivity

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

ISCA 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC4485

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 

    Range
    5001..7660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. NR_002196.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL546946, AL548405, BC040073
    Related
    ENST00000412788

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    1995176..1997835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    1807445..1810104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    2015226..2017885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)