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Genetics Home Reference: your guide to understanding genetic conditions
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EZH2

Reviewed May 2013

What is the official name of the EZH2 gene?

The official name of this gene is “enhancer of zeste 2 polycomb repressive complex 2 subunit.”

EZH2 is the gene's official symbol. The EZH2 gene is also known by other names, listed below.

What is the normal function of the EZH2 gene?

The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off (suppress) the activity of certain genes, an essential process in normal development. Specifically, the EZH2 enzyme forms part of a protein group called the polycomb repressive complex-2. By turning off particular genes, this complex is involved in the process that determines the type of cell an immature cell will ultimately become (cell fate determination).

Does the EZH2 gene share characteristics with other genes?

The EZH2 gene belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the EZH2 gene related to health conditions?

Weaver syndrome - caused by mutations in the EZH2 gene

At least 20 EZH2 gene mutations have been identified in people with Weaver syndrome. Signs and symptoms of this condition include bone overgrowth, a distinctive facial appearance, and joint problems. People with Weaver syndrome have an increased risk of developing cancer, but the small number of affected individuals makes the exact risk difficult to determine. EZH2 gene mutations may disrupt methylation and impair regulation of certain genes in many of the body's organs and tissues, resulting in the abnormalities characteristic of Weaver syndrome.

cancers - associated with the EZH2 gene

Changes in the EZH2 gene have been associated with various types of cancers. Mutations of this gene have been identified in cancers of blood-forming tissues (lymphomas and leukemias). These mutations are described as "gain-of-function" because they appear to enhance the activity of the EZH2 protein or give the protein a new, atypical function. In addition, excessive activity (overexpression) of the EZH2 gene has been identified in cancerous tumors of the prostate, breast, and other parts of the body. Changes involving the EZH2 gene likely impair normal control of cell division (proliferation), allowing cells to grow and divide too fast or in an uncontrolled way and leading to the development of cancer.

Where is the EZH2 gene located?

Cytogenetic Location: 7q35-q36

Molecular Location on chromosome 7: base pairs 148,807,371 to 148,884,348

The EZH2 gene is located on the long (q) arm of chromosome 7 between positions 35 and 36.

The EZH2 gene is located on the long (q) arm of chromosome 7 between positions 35 and 36.

More precisely, the EZH2 gene is located from base pair 148,807,371 to base pair 148,884,348 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about EZH2?

You and your healthcare professional may find the following resources about EZH2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EZH2 gene or gene products?

  • enhancer of zeste homolog 2 (Drosophila)
  • ENX-1
  • EZH2_HUMAN
  • histone-lysine N-methyltransferase EZH2
  • KMT6
  • KMT6A
  • lysine N-methyltransferase 6

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding EZH2?

atypical ; cancer ; cell ; cell division ; DNA ; enhancer ; enzyme ; gene ; histone ; joint ; lysine ; methyl ; methylation ; methyltransferase ; molecule ; proliferation ; prostate ; protein ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ. Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. (http://www.ncbi.nlm.nih.gov/pubmed/22177091?dopt=Abstract)
  • Majer CR, Jin L, Scott MP, Knutson SK, Kuntz KW, Keilhack H, Smith JJ, Moyer MP, Richon VM, Copeland RA, Wigle TJ. A687V EZH2 is a gain-of-function mutation found in lymphoma patients. FEBS Lett. 2012 Sep 21;586(19):3448-51. doi: 10.1016/j.febslet.2012.07.066. Epub 2012 Jul 28. (http://www.ncbi.nlm.nih.gov/pubmed/22850114?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2146)
  • OMIM: ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2 (http://omim.org/entry/601573)
  • Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget. 2011 Dec;2(12):1127-33. (http://www.ncbi.nlm.nih.gov/pubmed/22190405?dopt=Abstract)
  • Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):86-91. doi: 10.1002/ajmg.c.31359. Epub 2013 Apr 16. (http://www.ncbi.nlm.nih.gov/pubmed/23592277?dopt=Abstract)
  • Yap DB, Chu J, Berg T, Schapira M, Cheng SW, Moradian A, Morin RD, Mungall AJ, Meissner B, Boyle M, Marquez VE, Marra MA, Gascoyne RD, Humphries RK, Arrowsmith CH, Morin GB, Aparicio SA. Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation. Blood. 2011 Feb 24;117(8):2451-9. doi: 10.1182/blood-2010-11-321208. Epub 2010 Dec 29. (http://www.ncbi.nlm.nih.gov/pubmed/21190999?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: August 25, 2014