H19 (gene)

H19
Identifiers
Aliases	H19, ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, PRO2605, WT2, imprinted maternally expressed transcript (non-protein coding)
External IDs	GeneCards: H19
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.5 Start 1,995,163 bp End 2,001,470 bp
RNA expression pattern More reference expression data
Orthologs
Species	Human	Mouse
Entrez	283120	n/a
Ensembl	ENSG00000130600	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	Chr 11: 2 – 2 Mb	n/a
PubMed search		n/a

283120

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ENSG00000130600

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H19 is a gene for a long noncoding RNA, found in humans and elsewhere. H19 has a role in the negative regulation (or limiting) of body weight and cell proliferation. This gene also has a role in the formation of some cancers and in the regulation of gene expression. .

The H19 gene is expressed exclusively on one parental allele in a phenomenon known as imprinting. H19 is only transcribed from the maternally inherited allele; the paternal H19 allele is not expressed.

H19 was first named ASM (for Adult Skeletal Muscle) because of its expression in adult skeletal muscle ("ASM") in rats. H19 is also known as BWS because aberrant H19 expression can be involved in Beckwith-Wiedemann Syndrome ("BWS"), as well as Silver-Russell syndrome.

The H19 gene contains 3 Sp1 binding sites, however these 3 sites are present in a part of the sequence that has shown no transcriptional activity in deletion assays. As a result, these Sp1 binding sites are not expected to contribute much to the regulation of H19 gene transcription. The H19 gene sequence also contains binding sites for the C/EBP family of transcription factors. One of these C/EBP transcription factor binding sites also contains a CpG site. In vitro methylation of this CpG site on a DNA construct strongly inhibited transcription of the H19 gene.

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Wikipedia