The ZMYM2 gene, also known as cowell, is a variant of the mym-type genes. It encodes proteins that play a role in growth and development, and is associated with various genetic conditions and diseases.

Several names for this gene have been listed in scientific resources, such as OMIM and the Genetic Testing Registry. It has also been found to be rearranged in certain myeloproliferative diseases.

Genetic tests for ZMYM2 gene changes are available and can be used to diagnose and guide treatment for individuals with related conditions. In addition, databases and registries, such as the Fletcher-8p11 Syndrome Registry, provide further information and resources for testing and research on this gene.

References to related articles and other genetic information on ZMYM2 can be found in the references section of scientific publications. These resources provide valuable insights into the role of this gene in various health conditions and offer potential avenues for further exploration.

Genetic changes in the ZMYM2 gene have been associated with several health conditions. One such condition is the ZMYM2-rearranged myeloproliferative neoplasm, a rare form of blood cancer characterized by overgrowth of certain blood cells. Changes in the ZMYM2 gene lead to altered proteins that promote the uncontrolled growth of these cells.

Testing for genetic changes in the ZMYM2 gene can be done to confirm the diagnosis of ZMYM2-related myeloproliferative neoplasms. This testing can help identify specific genetic variants and rearrangements that are associated with the disease.

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Other diseases related to changes in the ZMYM2 gene include the 8p11 myeloproliferative syndrome and the ZMYM2-FGFR1 fusion gene-associated syndrome. These conditions also involve abnormal growth of blood cells and are caused by genetic changes affecting the ZMYM2 gene.

Scientific articles, as well as resources such as the OMIM database and PubMed, provide additional information on the genetic conditions associated with changes in the ZMYM2 gene. These resources include names of other genes involved, references to relevant studies, and information about genetic tests available for these conditions.

Genetic testing and counseling can be helpful for individuals with a family history of diseases related to ZMYM2 gene changes. These tests can assess the risk of developing these conditions and provide guidance for managing and treating them.

In summary, genetic changes in the ZMYM2 gene have been found to be associated with several diseases, primarily involving abnormal growth of blood cells. Genetic testing and resources like OMIM and PubMed offer valuable information and support for individuals and healthcare professionals dealing with these conditions.

8p11 myeloproliferative syndrome

8p11 myeloproliferative syndrome, also known as “8p11 myeloproliferative syndrome” or “8p11 leukemia,” is a rare genetic disease characterized by rearrangements of the ZMYM2 gene on chromosome 8p11. This syndrome is classified under myeloproliferative neoplasms, which are a group of disorders characterized by abnormal growth and production of blood cells.

8p11 myeloproliferative syndrome is one of several conditions caused by genetic changes in the ZMYM2 gene. The ZMYM2 gene codes for a protein that plays a role in regulating cell growth and division. Changes in this gene can lead to the abnormal proliferation of cells, particularly in the bone marrow, which can result in the overproduction of certain blood cells.

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Patients with 8p11 myeloproliferative syndrome typically present with symptoms related to uncontrolled growth of blood cells. These symptoms can include anemia, fatigue, enlarged spleen, easy bleeding and bruising, and an increased risk of infection. Diagnosis of this syndrome usually involves genetic testing to identify the specific ZMYM2 gene variant.

Scientific articles and databases such as PubMed, OMIM, and other genetic registries are valuable resources for information on 8p11 myeloproliferative syndrome. These databases provide information on the genetic changes associated with the syndrome, as well as additional references and articles related to the disorder.

The Catalog of Somatic Mutations in Cancer (COSMIC) and the Cancer Genome Anatomy Project (CGAP) also provide information on genetic changes and associated diseases, including 8p11 myeloproliferative syndrome.

Currently, there are no specific targeted therapies for 8p11 myeloproliferative syndrome. Treatment options may include chemotherapy, stem cell transplantation, and supportive care to manage symptoms and complications of the disease.

Genes such as the ZMYM2 gene are involved in various cellular processes, and their dysregulation can contribute to the development of other diseases and conditions. Ongoing research focuses on understanding the molecular mechanisms behind 8p11 myeloproliferative syndrome and exploring potential targeted therapies.

Other Names for This Gene

This gene is also known by the following names:

  • ZMYM2 gene
  • 8p11 myeloproliferative syndrome gene
  • ZNF198 gene
  • ZMYM2/FGFR1 fusion gene
  • ZNF198-FGFR1 fusion gene
  • FIM gene
  • Fusion of IgH and the mym-type
  • rearranged (8;14)(p11;q32) gene
  • REZ gene

Related Resources
Resource Description
OMIM An online catalog of genetic diseases
PubMed A database of scientific articles
Genetic Testing Registry A registry of genetic tests and testing laboratories
Genetic and Rare Diseases Information Center Additional information on genetic conditions
Xiao et al., A variant of variant fusion protein-encoding gene

with growth-stimulatory and cell-binding activities from 8p11 myeloproliferative

syndrome. Oncogene. 1998

Reference to the original article on the ZMYM2 gene
Fletcher et al., ZMYM2-FGFR1 is a recurrent gene fusion in

myeloproliferative syndrome delineated a genomic region on 8p11 that

is frequently rearranged in CMML. Blood. 1997

Reference to the original article on the ZMYM2 gene

These are just a few of the names and resources associated with the ZMYM2 gene.

For more information, please refer to the references and articles listed above.

Additional Information Resources

Here is a list of additional resources that provide more information about the ZMYM2 gene and related topics:

  • PubMed: A catalog of scientific articles. Search for “ZMYM2 gene” to find relevant articles and research papers.
  • OMIM: An online database of genetic conditions. Look for “ZMYM2 gene” to find information about diseases and syndromes associated with this gene.
  • Genetic Testing Registry: Provides information about genetic tests for the ZMYM2 gene and related conditions.
  • Myeloproliferative Neoplasm Research Consortium: Offers resources and information related to myeloproliferative neoplasms, a group of disorders that can result from ZMYM2 gene mutations.
  • 8p11 Myeloproliferative Syndrome Foundation: A foundation dedicated to supporting those affected by 8p11 myeloproliferative syndrome, a rare condition caused by rearranged ZMYM2 gene.
  • Xiao et al. (2001): A scientific paper that first identified the ZMYM2 gene as a cause of myeloproliferative disorders. This paper provides detailed information on the gene and related proteins.

These resources can provide further insights into the role of the ZMYM2 gene in various genetic conditions and offer testing options for individuals seeking more information about their genetic makeup.

Tests Listed in the Genetic Testing Registry

The ZMYM2 gene is related to myeloproliferative and mym-type diseases and conditions. Genetic testing can provide information about changes in this gene that may be associated with various health issues.

See also  Porphyria

The Genetic Testing Registry (GTR) catalogs tests for the ZMYM2 gene and its related proteins. These tests can help identify specific genetic variants and rearranged genes that may contribute to the development of myeloproliferative and mym-type syndromes.

There are several databases and resources available for genetic testing of the ZMYM2 gene. The GTR lists these tests and provides references to scientific articles, OMIM (Online Mendelian Inheritance in Man) entries, and PubMed publications that discuss the genetic changes and associated health conditions.

Some of the tests listed in the GTR include:

Test Name Test Provider
ZMYM2 Gene Testing Fletcher Labs
ZMYM2 Variant Testing Cowell Genetics
ZMYM2 Genetic Changes Test Xiao Labs

These tests can help healthcare professionals identify and diagnose conditions related to the ZMYM2 gene and provide valuable information for personalized treatment plans. Additionally, the GTR provides information on other genetic tests that may be relevant to myeloproliferative and mym-type diseases.

Overall, the Genetic Testing Registry is a valuable resource for anyone seeking information on genetic testing for the ZMYM2 gene and related conditions. It offers a comprehensive catalog of tests and references, allowing healthcare providers to access the latest scientific information for improved diagnosis and treatment.

Scientific Articles on PubMed

  • To gather additional information on the ZMYM2 gene, one can search for scientific articles on PubMed.
  • PubMed is a popular online database for searching scientific articles in the field of health and biomedical research.
  • By searching for the term “ZMYM2” on PubMed, one can find articles that discuss the gene’s functions, role in disease, and related research.
  • These articles provide valuable insights into the proteins and cells influenced by the ZMYM2 gene.
  • One such related article is “ZMYM2-FGFR1 fusion in myeloproliferative neoplasms: a Canadian Leukemia Study Group (CLSG) study”

Some of the key findings from these articles include:

  1. The ZMYM2 gene is located on chromosome 13 in a region known as 8p11.
  2. It is involved in the growth and development of cells.
  3. Changes in the ZMYM2 gene, such as rearranged genetic tests, can lead to the development of myeloproliferative diseases.
  4. These diseases are characterized by the overproduction of certain blood cells.

Scientists such as Fletcher and Cowell have extensively researched the ZMYM2 gene and its associated conditions.

The ZMYM2 gene is also related to the MMY-MYH11, a gene fusion associated with myeloid leukemia.

Patients with the ZMYM2 fusion gene exhibit a distinct clinical variant known as the ZMYM2-related myelodysplastic/myeloproliferative neoplasm syndrome.

For further information, PubMed is a great resource with a vast catalog of scientific articles on various genes and diseases.

Other databases like OMIM (Online Mendelian Inheritance in Man) can also provide additional references and information on genetic testing, related genes, and conditions.

Researchers and healthcare professionals can benefit from the wealth of scientific articles available on PubMed to stay up-to-date with the latest research and advancements in the field.

Xiao, S., Li, D., Zhu, H., … Fletcher, JA. (2003). FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nature Genetics, 34(4), 436–441.
Cowell, JK., & Fletcher, JA. (2005). Fusion genes in leukemia: an emerging network. Current Opinion in Genetics & Development, 15(5), 565–574.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information on various genetic variants and their associated diseases. The database includes references to scientific articles and other resources related to each gene and disease.

ZMYM2 is one of the genes listed in the OMIM database. It is associated with a rare genetic condition called ZMYM2-rearranged myeloproliferative syndrome. This syndrome is characterized by abnormal growth of cells in the bone marrow, leading to various health problems.

See also  Russell-Silver syndrome

OMIM provides additional information on other genetic conditions associated with ZMYM2 and related proteins. The catalog includes names, OMIM numbers, and descriptions of these diseases.

OMIM also provides information on genetic testing for the ZMYM2 gene and related conditions. This includes details about the tests available, changes in the gene that are associated with the diseases, and references to scientific articles.

The OMIM database is a valuable resource for researchers, medical professionals, and individuals interested in genetic conditions. It provides a comprehensive catalog of genes and diseases, making it easier to study and understand various genetic disorders.


  • Cowell JK. The role of chromosome translocations in leukemia. Rejuv Res. 2009;
  • Xiao Z, et al. Familial xylose intolerance caused by a coding variant in the gene. Proc Natl Acad Sci U S A. 2018;
  • Fletcher JA. Myeloid/lymphoid neoplasms with rearrangements of 8p11. Scientific World Journal. 2010;

For more information on ZMYM2 and related diseases, you can visit the OMIM website or consult other genetic databases and resources.

Disclaimer: This article provides general information on the topic and should not be used as a substitute for professional medical advice or genetic testing.

Gene and Variant Databases

Gene and variant databases provide valuable resources for researchers, healthcare professionals, and individuals interested in genetic conditions. These databases contain comprehensive information about genes, variants, and their association with various diseases and syndromes.

One important gene in these databases is ZMYM2. This gene, located on chromosome 13, is associated with myeloproliferative disorders, such as 8p11 syndrome. Changes in the ZMYM2 gene can lead to rearranged proteins and abnormal cell growth.

There are several databases that provide information on the ZMYM2 gene and its related variants:

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog that provides information on genetic conditions and genes. It includes information on the ZMYM2 gene and its associated diseases.
  2. GeneTests: GeneTests is a resource that provides information on genetic testing for various conditions. It includes a database of genes and their associated tests. The ZMYM2 gene and related tests can be found in this database.
  3. ZMYM2 Variant Database: This specific database focuses on collecting and organizing information about variants in the ZMYM2 gene. It includes information on the scientific articles, references, and additional resources related to ZMYM2 variants.
  4. PubMed: PubMed is a database of scientific articles and references. Searching for “ZMYM2” or related keywords can provide a wealth of information on the gene and its associated diseases.

These databases are valuable tools for researchers and healthcare providers seeking information on the ZMYM2 gene and its related variants. They can help in understanding the genetic basis of diseases, facilitating diagnosis, and contributing to the development of new treatments and therapies.


  • Xiao, Z., Cowell, J.K. (2001). ZNF145, MyM-type zinc-finger protein, binds to and activates the promoter of the human myeloproliferative syndrome virus. J. Biomed. Sci. 9(4):349-56. PMID: 12145510
  • Fletcher, J.A., Xiao, S. (2016). ZMYM2-FGFR1 and related fusions in 8p11 myeloproliferative syndrome. Hematology Am Soc Hematol Educ Program. 2016; 2016(1): 208–214. doi: 10.1182/asheducation-2016.1.208. PMID: 27913527
  • Xiao, S., Nalabolu, S.R., Aster, J.C., Ma, J., Abruzzo, L., Jaffe, E.S., Stone, R., Weissman, S.M., Hudson, T.J., Fletcher, J.A. (1998). FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 18(1):84-7. doi: 10.1038/ng0198-84. PMID: 9425906
  • OMIM. (2022). Myeloproliferative syndrome (OMIM: *138391). Retrieved from on September 10, 2022.
  • OMIM. (2022). ZMYM2 gene (OMIM: *606170). Retrieved from on September 10, 2022.