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H19 gene
URL of this page: https://medlineplus.gov/genetics/gene/h19/

H19 gene

H19 imprinted maternally expressed transcript

Normal Function

The H19 gene provides instructions for making a molecule of RNA, a chemical cousin of DNA. This RNA molecule is noncoding, which means that it does not contain instructions for making a protein. Researchers believe that this noncoding RNA acts as a tumor suppressor, keeping cells from growing and dividing too fast or in an uncontrolled way. The H19 gene is highly active in various tissues before birth and appears to play an important role in early development.

In most cases, people receive one copy of each gene from the egg cell and one copy from the sperm cell. Both copies are typically active, or "turned on," in cells. However, the activity of the H19 gene depends on whether the gene comes from the egg cell or the sperm cell. Typically, only the H19 gene inherited from the egg cell is active. This parent-specific difference in gene activation is called genomic imprinting.

A nearby region of DNA regulates the genomic imprinting of the H19 gene and another gene, called IGF2, that is important for growth and development. This region is known as an imprinting center or imprinting control region. In a process known as methylation, small molecules called methyl groups are added to the imprinting center to regulate the activity of the H19 and IGF2 genes. Typically, only the H19 imprinting center that is derived from the sperm cell is methylated. 

Health Conditions Related to Genetic Changes

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome, a growth disorder that affects many parts of the body, can be caused by changes that affect the imprinting centers. In some people with this condition, both copies of the H19 imprinting center are methylated. Because this imprinting center controls the genomic imprinting of the H19 and IGF2 genes, this abnormality disrupts the regulation of both genes. Specifically, abnormal methylation of this imprinting center decreases H19 gene activity and increases IGF2 gene activity in many tissues. These changes lead to the overgrowth seen in people with Beckwith-Wiedemann syndrome.

In a few cases, Beckwith-Wiedemann syndrome has been caused by deletions of a small amount of DNA from the H19 imprinting center. These deletions impair the imprinting center’s ability to regulate the activity of the H19 and IGF2 genes.

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Breast cancer

MedlinePlus Genetics provides information about Breast cancer

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Silver-Russell syndrome

Changes in methylation are responsible for most cases of Silver-Russell syndrome, a disorder that is characterized by slow growth before and after birth. 

In people with Silver-Russell syndrome, the H19 imprinting center derived from the sperm cell often has fewer methyl groups than it should (hypomethylation). Hypomethylation of the imprinting center impairs its ability to regulate genes and leads to increased activity of the H19 gene and decreased activity of the IGF2 gene, which causes the slow growth seen in people with Silver-Russell syndrome.

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Wilms tumor

Methylation changes have also been found in some cases of Wilms tumor, a rare form of kidney cancer that occurs almost exclusively in children.

In some people with Wilms tumor, both copies of the H19 imprinting center are methylated. This change leads to decreased H19 gene activity and increased IGF2 gene activity in kidney cells, which can cause the uncontrolled cell growth and tumor development seen in people with Wilms tumor. As this mechanism is similar to the one that causes Beckwith-Wiedemann syndrome, some individuals with Beckwith-Wiedemann syndrome will also develop Wilm’s tumor.

In most cases, the abnormal methylation and subsequent changes in H19 and IGF2 gene activity are acquired during a person's lifetime (somatic) and are present only in the kidneys.

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Other Names for This Gene

  • ASM
  • D11S813E
  • H19, imprinted maternally expressed transcript (non-protein coding)
  • LINC00008
  • MIR675HG
  • NCRNA00008

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 Dec 21. Citation on PubMed
  • Cai X, Cullen BR. The imprinted H19 noncoding RNA is a primary microRNA precursor. RNA. 2007 Mar;13(3):313-6. doi: 10.1261/rna.351707. Epub 2007 Jan 19. Citation on PubMed or Free article on PubMed Central
  • Eggermann T, Eggermann K, Schonherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7. Citation on PubMed
  • Gabory A, Jammes H, Dandolo L. The H19 locus: role of an imprinted non-coding RNA in growth and development. Bioessays. 2010 Jun;32(6):473-80. doi: 10.1002/bies.200900170. Citation on PubMed
  • MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Brodeur GM, Ganguly A, Mattei PA, Surrey LF, Balis FM, Kalish JM. Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor. Pediatr Blood Cancer. 2018 Oct;65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22. Citation on PubMed or Free article on PubMed Central
  • Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Hum Mol Genet. 2011 Apr 1;20(7):1363-74. doi: 10.1093/hmg/ddr018. Epub 2011 Jan 31. Citation on PubMed or Free article on PubMed Central
  • Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet. 2004 Sep;36(9):958-60. doi: 10.1038/ng1410. Epub 2004 Aug 15. Citation on PubMed
  • Tian F, Yourek G, Shi X, Yang Y. The development of Wilms tumor: from WT1 and microRNA to animal models. Biochim Biophys Acta. 2014 Aug;1846(1):180-7. doi: 10.1016/j.bbcan.2014.07.003. Epub 2014 Jul 11. Citation on PubMed
  • Turner JT, Brzezinski J, Dome JS. Wilms Tumor Predisposition. 2003 Dec 19 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1294/ Citation on PubMed
  • Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Gronskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tumer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Citation on PubMed
  • Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and Management of Beckwith-Wiedemann Syndrome. Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019. Citation on PubMed

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