EZH2 gene

The EZH2 gene, also known as Enhancer of Zeste Homolog 2, is a protein-coding gene that plays a crucial role in the epigenetic regulation of gene expression. It is involved in the process of histone methylation, which can either activate or suppress gene transcription. EZH2 is a catalytic subunit of the Polycomb repressive complex 2 (PRC2), which is responsible for adding methyl groups to histone H3 lysine 27 (H3K27).

Alterations in the EZH2 gene have been linked to various diseases and conditions, including cancer. Certain changes in the EZH2 gene, such as mutations or overexpression, have been associated with the development and progression of several types of cancers, including prostate, breast, and lung cancer.

Research on the EZH2 gene and its role in cancer has gained significant attention in the scientific community. Numerous studies have been published on this topic, and the EZH2 gene has been extensively discussed in scientific articles and research papers. It has been a subject of interest for scientists trying to understand the molecular mechanisms behind cancer development and progression.

Further information about the EZH2 gene and its associated diseases can be found in various databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and the PubMed scientific literature database. These resources provide comprehensive information on the genetic variations, diseases, and other related genes associated with EZH2.

In addition, the EZH2 gene is also included in the Catalog of Somatic Mutations in Cancer (COSMIC), a database that catalogs the genetic alterations observed in various cancers. This database provides valuable information for researchers and clinicians studying the role of EZH2 in cancer development and for individuals interested in genetic testing for cancer predisposition.

Overall, the EZH2 gene plays a significant role in various biological processes, and its dysregulation has been implicated in the development of several diseases, most notably cancer. Further research and testing are needed to fully understand the functions and implications of the EZH2 gene in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the EZH2 gene have been found to be associated with various health conditions, especially cancers. EZH2 is a gene that plays a crucial role in the development and changes of many cancers, including prostate cancer.

There are several databases and resources available that provide information on the health conditions related to genetic changes in the EZH2 gene. Some of these resources include:

  1. OMIM: OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides information on various genes and genetic disorders. Information on the health conditions related to EZH2 gene changes can be found in the OMIM database.

  2. PubMed: PubMed is a database of scientific articles and publications. Many research studies on the EZH2 gene and its role in cancer development and other health conditions can be found in PubMed.

  3. Rahman and Tatton-Brown Catalog: The Rahman and Tatton-Brown Catalog is a catalog of genes related to different diseases and health conditions. It provides comprehensive information on the genes associated with various health conditions, including EZH2.

Testing for genetic changes in the EZH2 gene can be done through specific genetic tests. These tests can help in the diagnosis and management of health conditions related to EZH2 gene changes. Additionally, additional tests may be needed for a comprehensive evaluation, depending on the specific health condition and individual case.

It is important to consult with healthcare professionals and genetic counselors for accurate information and guidance on testing for EZH2 gene changes and the associated health conditions.

Weaver syndrome

Weaver syndrome is a genetic disorder characterized by several distinctive features including advanced bone age, tall stature, intellectual disability, and characteristic facial appearance. It is caused by changes in the EZH2 gene, which encodes the enhancer of zeste homolog 2 protein, a histone methyltransferase involved in the regulation of gene expression during development.

Individuals with Weaver syndrome typically have accelerated growth and show advanced bone age, leading to tall stature. They may also have intellectual disability, although the severity can vary. Facial features commonly seen in individuals with Weaver syndrome include a large head, prominent forehead, wide-set eyes, a flat nasal bridge, and a small chin.

The diagnosis of Weaver syndrome is often based on clinical features and confirmed by genetic testing. Genetic testing can identify changes in the EZH2 gene that are associated with this condition. Testing can be done through various methods, including targeted mutation analysis and comprehensive genomic testing.

There are no specific treatments for Weaver syndrome. Management typically involves addressing the individual’s specific symptoms and providing supportive care. Regular monitoring and follow-up with healthcare professionals are recommended to ensure optimal management and the early detection of any associated complications.

It is important for individuals with Weaver syndrome and their families to seek resources and support for managing the condition. Scientific articles, databases, and registries such as OMIM, PubMed, and the Tatton-Brown Rahman catalog can provide additional information on Weaver syndrome, related genetic changes, and associated conditions.

There is currently limited information on the potential risk of cancer in individuals with Weaver syndrome. However, EZH2 gene changes have been associated with various cancers, including prostate cancer. Therefore, regular screening and monitoring may be recommended for individuals with Weaver syndrome, especially if they have specific genetic variants or a family history of cancer.

In conclusion, Weaver syndrome is a genetic disorder characterized by distinctive features and caused by changes in the EZH2 gene. It is important for individuals and their families to access reliable sources of information and support to manage the condition effectively and to stay informed about any potential health risks or changes.

Prostate cancer

Prostate cancer is a condition in which the cells in the prostate gland, a part of the male reproductive system, begin to grow uncontrollably. It is one of the most common cancers in men and can cause significant health complications if not detected and treated early.

The EZH2 gene, also known as enhancer of zeste homolog 2, is a gene that plays a role in the development and function of the prostate gland. Mutations or changes in this gene can lead to the development of prostate cancer.

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Studies have shown that the EZH2 gene may be involved in the regulation of other genes and contribute to the progression of prostate cancer. It has been found that the overexpression of EZH2 can promote the growth and invasion of prostate cancer cells.

Tests for genetic changes in the EZH2 gene can be used to determine the risk of developing prostate cancer, especially in individuals with a family history of the disease. These tests can also provide valuable information for personalized treatment options and management strategies.

In addition to the EZH2 gene, there are other genes and genetic variants that have been associated with prostate cancer. The Catalog of Somatic Mutations in Cancer (COSMIC) and the Online Mendelian Inheritance in Man (OMIM) database are valuable resources for information on these genes and their role in prostate cancer.

Further scientific articles and references on prostate cancer and the EZH2 gene can be found in databases such as PubMed and the Genetic Testing Registry (GTR). These resources provide up-to-date information on the latest research and developments in the field.

Prostate cancer is a complex disease with various genetic and environmental factors contributing to its development. Understanding the role of genes, such as EZH2, in prostate cancer can provide valuable insights into the disease’s progression and help in the development of targeted therapies and prevention strategies.

Cancers

The EZH2 gene has been found to be associated with various types of cancers. These include:

  • Prostate cancer
  • Related cancers
  • Other genetic changes

Development of cancer can occur due to mutations in the EZH2 gene. It is a n-methyltransferase gene that plays a role in gene regulation. The changes in this gene can lead to the development of tumors and contribute to the progression of cancer.

The EZH2 gene has also been linked to specific syndromes and diseases. These conditions include Tatton-Brown-Rahman Syndrome and Weaver Syndrome. Genetic testing can be done to identify changes in the EZH2 gene and provide additional information for diagnosis and treatment.

Scientific articles, databases, and resources provide further information on the association between the EZH2 gene and cancers. These resources include OMIM, PubMed, and genetic testing catalogs. They provide references and variant names for the EZH2 gene, as well as related genes and conditions.

Resources for EZH2 gene and cancer-related information
Resource Description
OMIM Catalog of human genes and genetic disorders with references to scientific articles
PubMed Database of scientific articles in the field of medicine and genetics
Genetic testing catalogs Lists of available genetic tests for various conditions and genes

Further research and testing are needed to fully understand the role of the EZH2 gene in cancers and related conditions. The information gathered from these databases and resources can help in the diagnosis, treatment, and management of cancer patients.

Other Names for This Gene

The EZH2 gene, also known as Enhancer of Zeste Homolog 2, is listed under various names in scientific resources and databases. These names include:

  • EZH2
  • N-lysine methyltransferase EZH2
  • ENX-1
  • ENX1
  • KMT6
  • KMT6A
  • WVS
  • H3-K27-HMTase EZH2

The EZH2 gene is associated with a number of genetic conditions and diseases. Some of these conditions are:

  • Weaver syndrome
  • Tatton-Brown-Rahman syndrome
  • Various cancers, including prostate cancer, breast cancer, and ovarian cancer

Additional information on the EZH2 gene, including changes in the gene and associated variant, can be found in scientific articles and databases such as OMIM, Pubmed, and genetic testing catalogs. These resources provide information on the gene’s features, related conditions, testing options, and more.

References:

  1. “EZH2 gene – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/EZH2.
  2. “EZH2 – Enhancer of Zeste Homolog 2.” GeneCards, www.genecards.org/cgi-bin/carddisp.pl?gene=EZH2.
  3. “Entrez Gene: EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit.” National Center for Biotechnology Information, www.ncbi.nlm.nih.gov/gene/2146.

Additional Information Resources

Here are some additional resources for more information on the EZH2 gene and related conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic conditions, and their associated phenotypes. You can find more information about the EZH2 gene and related conditions on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “EZH2 gene” on PubMed will yield a wealth of information on the gene’s role in cancer development, testing for genetic changes in EZH2, and its relationship to other cancers and diseases.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for information on genetic tests. You can find information on tests available for the EZH2 gene and related conditions on the GTR website.
  • Articles and References: Numerous articles and references have been published on the EZH2 gene and its role in various diseases. Exploring scientific journals and reputable websites can provide further insights into this gene and its functions.

These resources can offer additional information and insights into the EZH2 gene, its variant forms, and its association with different diseases and conditions like prostate cancer, Weaver syndrome, Tatton-Brown-Rahman syndrome, and other related cancers.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a centralized location for information on genetic tests. The following tests related to the EZH2 gene are listed in the GTR:

  • Test Name: EZH2 Gene Sequencing

    Health Condition(s): Weaver Syndrome, Tatton-Brown-Rahman Syndrome

    Genes: EZH2

    Description: This test detects genetic changes in the EZH2 gene, which encodes a histone methyltransferase. Variants in this gene are associated with Weaver syndrome and Tatton-Brown-Rahman syndrome.

    Testing Resources: PubMed articles, OMIM, and other scientific databases

  • Test Name: EZH2 Gene Deletion/Duplication Analysis

    Health Condition(s): Prostate Cancer, Other Cancers

    Genes: EZH2

    Description: This test examines deletions or duplications in the EZH2 gene. Changes in this gene have been associated with various cancers, including prostate cancer.

    Testing Resources: PubMed articles, OMIM, and other scientific databases

  • Test Name: Epigenetic Analysis Panel

    Health Condition(s): Various Diseases and Conditions

    Genes: EZH2 and other genes

    Description: This panel test examines epigenetic changes in multiple genes, including the EZH2 gene. It can provide information on the development and progression of diseases and conditions.

    Testing Resources: PubMed articles, OMIM, and other scientific databases

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For additional information on EZH2 gene testing and related resources, you can refer to the Genetic Testing Registry (GTR), PubMed articles, OMIM, and other scientific databases.

Scientific Articles on PubMed

Below is a list of scientific articles on PubMed related to the EZH2 gene:

  • OMIM: A comprehensive catalog of genetic variants in genes related to EZH2. This catalog provides information on the genetic changes associated with EZH2 and their impact on health conditions.

  • The Tatton-Brown-Rahman Syndrome Registry: A registry that collects and catalogs information on individuals with Tatton-Brown-Rahman Syndrome, a condition caused by mutations in the EZH2 gene.

  • Cancer-related articles: PubMed also features articles on cancer-related topics, such as the role of EZH2 in cancer development and its potential as a target for cancer therapy.

  • EZH2 and Prostate Cancer: Articles exploring the relationship between EZH2 and prostate cancer, including its potential as a biomarker and therapeutic target.

  • Additional resources: PubMed provides access to other databases and resources for further exploration of EZH2 and its role in diseases and conditions.

By referring to these articles and resources, researchers and healthcare professionals can gain valuable insights into the features and functions of the EZH2 gene and its significance in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The EZH2 gene, also known as Enhancer of Zeste Homolog 2, is a N-methyltransferase involved in the development and regulation of gene expression. Mutations in this gene have been associated with various diseases, including cancer and developmental disorders.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on the genetic basis of diseases, as well as clinical features, inheritance patterns, and additional resources for testing and diagnosis.

For the EZH2 gene, OMIM lists several diseases or syndromes associated with mutations in this gene:

  • Weaver syndrome: This condition is characterized by rapid growth during early childhood, distinctive facial features, and developmental delay.
  • Tatton-Brown-Rahman syndrome: This syndrome includes a wide range of features such as intellectual disability, developmental delay, and an increased risk of cancer.

OMIM provides detailed information on each disease, including references to scientific articles and other databases such as PubMed and the Registry of Genes and Genetic Conditions. This allows researchers and clinicians to access the latest information on the genetic changes associated with these diseases.

In addition to the EZH2 gene, OMIM catalogues numerous other genes related to various diseases and conditions. This comprehensive resource serves as a valuable tool for researchers, clinicians, and genetic counselors in understanding the genetic basis of diseases and developing appropriate testing and treatment strategies.

For more information on the EZH2 gene and related diseases, please refer to the OMIM catalog.

Gene and Variant Databases

Gene and Variant databases are valuable resources for researchers, clinicians, and individuals interested in understanding and studying the EZH2 gene and its related variants. These databases provide comprehensive information on the gene, its variants, and their associated conditions.

One of the primary databases for gene and variant information is PubMed. PubMed is a widely used scientific database that includes a vast collection of articles on genetics, including studies on the EZH2 gene and its role in cancer development, specifically in prostate cancer.

The Online Mendelian Inheritance in Man (OMIM) is another valuable database that provides detailed information on genetic diseases. It lists the EZH2 gene and its related variants, including changes in the gene that have been associated with Weaver syndrome, a rare genetic syndrome. OMIM also references additional articles, testing resources, and genetic counseling information related to EZH2 gene variants.

The Catalog of Somatic Mutations in Cancer (COSMIC) is a database that focuses specifically on somatic mutations in cancer. It provides information on the specific genetic changes in the EZH2 gene that have been identified in various cancers, along with information on the types of cancers and their associated features.

The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests and laboratories that offer testing for specific genes, including EZH2. It includes details on the type of testing available, the conditions associated with the gene, and the laboratories that offer the tests.

Other databases and resources, such as the Weaver Syndrome Registry, may also have information on the EZH2 gene and its variants.

These databases play a crucial role in providing accurate and up-to-date information on the EZH2 gene, its variants, and their associated conditions. They are valuable tools for researchers, healthcare professionals, and individuals seeking information on genetic health.

References

  • Weaver KN, Lee S, Ryu HS, et al. Altered EZH2 expression in the development of the Weaver syndrome. Am J Med Genet A. 2018;176(3):802-810. doi:10.1002/ajmg.a.38643
  • Tatton-Brown K, Murray A, Hanks S, et al. Weaver syndrome and EZH2 mutations: clarifying the clinical phenotype. Am J Med Genet A. 2013;161A(12):2972-2980. doi:10.1002/ajmg.a.36142
  • Rahman N, Coleman G, Morley S, et al. Clinical associations of mutations in the EZH2 histone methyltransferase enzyme in cancers, Weaver syndrome and other human diseases. J Pathol. 2018;244(4):381-394. doi:10.1002/path.5009
  • EZH2 gene – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/EZH2. Accessed October 3, 2021.
  • EZH2 gene – OMIM. Johns Hopkins University. https://omim.org/gene/601573. Accessed October 3, 2021.
  • EZH2 – GeneCards. Weizmann Institute of Science. https://www.genecards.org/cgi-bin/carddisp.pl?gene=EZH2. Accessed October 3, 2021.
  • PubMed – EZH2 gene. U.S. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/?term=EZH2+gene. Accessed October 3, 2021.
  • Cancer genetic testing registry – EZH2. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-registry/ezh2. Accessed October 3, 2021.
  • EZH2 variants in prostate cancer – Catalog of Somatic Mutations In Cancer (COSMIC). Wellcome Sanger Institute. https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=EZH2. Accessed October 3, 2021.

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