H19 (gene)

H19
Identifiers
Aliases	H19, BWS, LINC00008, ASM1, NCRNA00008, imprinted maternally expressed transcript, D11S813E, MIR675HG, imprinted maternally expressed transcript (non-protein coding), H19 imprinted maternally expressed transcript, WT2, PRO2605, ASM
External IDs	OMIM: 103280; GeneCards: H19; OMA:H19 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	2,001,470 bp
RNA expression pattern
	Top expressed in
	placenta; ; muscle of thigh; ; apex of heart; ; right adrenal cortex; ; gastrocnemius muscle; ; left adrenal cortex; ; skeletal muscle tissue; ; left uterine tube; ; left ventricle; ; canal of the cervix;
	n/a
	More reference expression data
	More reference expression data
Orthologs
	283120
	n/a
	ENSG00000130600; ENSG00000288237
	n/a
	n; a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

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.^[3] This gene also has a role in the formation of some cancers and in the regulation of gene expression.^[4]

The H19 gene is expressed exclusively on one parental allele in a phenomenon known as imprinting.^[5] H19 is only transcribed from the maternally inherited allele; the paternal H19 allele is not expressed.^[6] H19 was first named ASM (for Adult Skeletal Muscle) because of its expression in adult skeletal muscle ("ASM") in rats.^[7] H19 is also known as BWS because aberrant H19 expression can be involved in Beckwith-Wiedemann Syndrome ("BWS"), as well as Silver-Russell syndrome.^[8] Epigenetics deregulations at H19 imprinted gene in sperm have been observed associated with male infertility.^[9]

^ ^a ^b ^c ENSG00000288237 GRCh38: Ensembl release 89: ENSG00000130600, ENSG00000288237 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gabory, et al. (2009). "H19 acts as a trans regulator of the imprinted gene network controlling growth in mice" (PDF). Development. 136 (20): 3413–3421. doi:10.1242/dev.036061. PMID 19762426.
^ "H19: imprinted maternally expressed transcript (non-protein coding) (Homo sapiens)". Entrez Gene. National Center for Biotechnology Information. Retrieved 2008-06-06.
^ Zhang Y, Tycko B (April 1992). "Monoallelic expression of the human H19 gene". Nat. Genet. 1 (1): 40–44. doi:10.1038/ng0492-40. PMID 1363808. S2CID 35338859.
^ Rachmilewitz J, Goshen R, Ariel I, Schneider T, de Groot N, Hochberg A (August 1992). "Parental imprinting of the human H19 gene". FEBS Lett. 309 (1): 25–28. Bibcode:1992FEBSL.309...25R. doi:10.1016/0014-5793(92)80731-U. PMID 1380925. S2CID 22194553.
^ Leibovitch MP, Nguyen VC, Gross MS, Solhonne B, Leibovitch SA, Bernheim A (November 1991). "The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15". Biochem. Biophys. Res. Commun. 180 (3): 1241–1250. doi:10.1016/S0006-291X(05)81329-4. PMID 1953776.
^ Online Mendelian Inheritance in Man (OMIM): H19 Gene - 103280
^ Rotondo JC, Selvatici R, Di Domenico M, Marci R, Vesce F, Tognon M, Martini F (September 2013). "Methylation loss at H19 imprinted gene correlates with methylenetetrahydrofolate reductase gene promoter hypermethylation in semen samples from infertile males". Epigenetics. 8 (9): 990–997. doi:10.4161/epi.25798. PMC 3883776. PMID 23975186.

[refGRCh38Ensembl-1] ENSG00000288237 GRCh38: Ensembl release 89: ENSG00000130600, ENSG00000288237 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] Gabory, et al. (2009). "H19 acts as a trans regulator of the imprinted gene network controlling growth in mice" (PDF). Development. 136 (20): 3413–3421. doi:10.1242/dev.036061. PMID 19762426.

[Entrez_Gene-4] "H19: imprinted maternally expressed transcript (non-protein coding) (Homo sapiens)". Entrez Gene. National Center for Biotechnology Information. Retrieved 2008-06-06.

[Zhang-5] Zhang Y, Tycko B (April 1992). "Monoallelic expression of the human H19 gene". Nat. Genet. 1 (1): 40–44. doi:10.1038/ng0492-40. PMID 1363808. S2CID 35338859.

[pmid1380925-6] Rachmilewitz J, Goshen R, Ariel I, Schneider T, de Groot N, Hochberg A (August 1992). "Parental imprinting of the human H19 gene". FEBS Lett. 309 (1): 25–28. Bibcode:1992FEBSL.309...25R. doi:10.1016/0014-5793(92)80731-U. PMID 1380925. S2CID 22194553.

[pmid1953776-7] Leibovitch MP, Nguyen VC, Gross MS, Solhonne B, Leibovitch SA, Bernheim A (November 1991). "The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15". Biochem. Biophys. Res. Commun. 180 (3): 1241–1250. doi:10.1016/S0006-291X(05)81329-4. PMID 1953776.

[OMIM-8] Online Mendelian Inheritance in Man (OMIM): H19 Gene - 103280

[Rotondo_2013-9] Rotondo JC, Selvatici R, Di Domenico M, Marci R, Vesce F, Tognon M, Martini F (September 2013). "Methylation loss at H19 imprinted gene correlates with methylenetetrahydrofolate reductase gene promoter hypermethylation in semen samples from infertile males". Epigenetics. 8 (9): 990–997. doi:10.4161/epi.25798. PMC 3883776. PMID 23975186.

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