The MAP2K2 gene is a member of the rasmapk signaling pathway, which plays a crucial role in cell growth, differentiation, and survival. Also known as MEK2 (mitogen-activated protein kinase kinase 2), MAP2K2 is responsible for activating the MAPK signaling cascade. This gene provides important information for scientific research and clinical testing.

MAP2K2 is listed in various databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources contain a wealth of information on the gene, including its function, protein structure, associated diseases, and genetic changes. Additionally, they catalog articles, references, and other related resources.

One of the conditions associated with MAP2K2 gene changes is the cardiofaciocutaneous syndrome (CFC). This syndrome is characterized by heart defects, facial abnormalities, and skin abnormalities. Genetic tests can be performed to identify variants in this gene and provide diagnostic information for individuals with CFC syndrome and other related conditions.

The MAP2K2 gene is involved in a signaling pathway called the RAF-MAPK pathway, which is important for cell growth and division. Genetic changes in this gene can lead to various health conditions. Some of the conditions related to genetic changes in the MAP2K2 gene include:

  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by developmental delay, intellectual disability, heart defects, distinctive facial features, and skin abnormalities. Mutations in the MAP2K2 gene can cause this syndrome.
  • Noonan Syndrome: Another rare genetic disorder characterized by developmental delay, intellectual disability, short stature, heart defects, and characteristic facial features. Mutations in the MAP2K2 gene have been found in some individuals with Noonan syndrome.
  • RAS/MAPK Syndromes: This group of related conditions includes Noonan syndrome, cardiofaciocutaneous syndrome, and other disorders caused by mutations in genes involved in the RAS-MAPK signaling pathway, such as the MAP2K2 gene.

Genetic testing can be used to identify changes in the MAP2K2 gene and determine the clinical implications. Testing is often done through targeted sequencing or gene panel testing, which involve analyzing the specific genes associated with these conditions.

Additional information about the MAP2K2 gene and related conditions can be found in scientific articles, such as those listed in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases. The OMIM and PubMed databases provide references to articles that contain detailed information on the genes, diseases, and variants associated with these conditions.

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Furthermore, various resources, such as the Genetic Testing Registry, provide information on available tests for the MAP2K2 gene and related genes. These resources can help individuals and healthcare professionals access the most up-to-date information on testing options and clinical implications.

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome is a rare genetic disorder that affects multiple systems and is caused by mutations in the MAP2K2 gene, which is part of the mitogen-activated protein kinases (MAPK) signaling pathway.

The syndrome is characterized by a range of clinical features, including heart abnormalities (cardio-), distinctive facial features (facio-), and skin abnormalities (cutaneous). These features can vary widely among affected individuals.

Testing for mutations in the MAP2K2 gene can confirm a diagnosis of cardiofaciocutaneous syndrome. In addition, genetic testing may also be used to identify mutations in other genes associated with similar conditions such as Noonan syndrome and Costello syndrome.

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the MAP2K2 gene, including its variant names, protein information, and references to scientific articles.
  • The PubMed database contains a wealth of scientific articles related to cardiofaciocutaneous syndrome and the MAP2K2 gene.
  • The ClinVar database contains information on genetic variants associated with cardiofaciocutaneous syndrome and provides links to additional resources.
  • The Nava Gene and Variant Database is a comprehensive resource for genetic testing and clinical information on a variety of genetic conditions, including cardiofaciocutaneous syndrome.
  • The Genetic and Rare Diseases Information Center (GARD) provides resources and information for individuals and families affected by cardiofaciocutaneous syndrome.
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Further research is needed to better understand the underlying molecular changes and signaling pathways involved in cardiofaciocutaneous syndrome. This knowledge could help to develop targeted therapies and improve the management of this condition.

Other Names for This Gene

  • The MAP2K2 gene is also listed under other names, which include:
    • Ras/mitogen-activated protein kinase kinase 2
    • MAP kinase kinase 2
    • MKK2
    • MEK2

In the context of related genes, the MAP2K2 gene is involved in the mitogen-activated protein kinase (MAPK) signaling pathway. This pathway plays a crucial role in various cellular processes related to cell growth, differentiation, proliferation, and survival.

There are clinical tests available to assess the function and variants of the MAP2K2 gene. These tests are often used in the evaluation of certain genetic conditions and syndromes, including cardiofaciocutaneous syndrome.

References to studies, articles, and databases can provide additional information about the MAP2K2 gene, related genes, and genetic testing. Some of the resources include:

  1. Online Mendelian Inheritance in Man (OMIM)
  2. PubMed
  3. Genes and Diseases
  4. The Human Gene Mutation Database (HGMD)
  5. GeneReviews
  6. The Genetic Testing Registry (GTR)
  7. Scientific articles and publications

These resources offer valuable information on the MAP2K2 gene, its protein product, associated conditions, and the impact of genetic changes.

Additional Information Resources

For additional information about the MAP2K2 gene and related topics, you may find the following resources helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. You can find more information about the MAP2K2 gene and related diseases on OMIM.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics. You can search for scientific articles related to the MAP2K2 gene and its role in different diseases and conditions.
  • The NAVA Gene: Gene and Protein Information: The NAVA Gene provides detailed information about genes and their associated proteins. You can find information about the MAP2K2 gene and its protein on this database.
  • The Cardiofaciocutaneous Syndrome Genetic Testing Registry: This registry provides information about genetic testing options for cardiofaciocutaneous syndrome (CFC). It includes information on MAP2K2 gene testing and other genes involved in this syndrome.
  • RASMAPK Cancer Syndrome Support Group: This support group provides information and resources for individuals and families affected by RASMAPK pathway syndromes, including those related to MAP2K2 gene mutations.

These resources offer a wealth of information on the MAP2K2 gene, its role in signaling pathways, related diseases and conditions, genetic testing options, and much more. They can be valuable references for both scientists and individuals seeking information on this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for a wide range of genes and related genetic conditions. It serves as a comprehensive resource for healthcare professionals, researchers, and patients seeking information about genetic testing.

The GTR lists various tests associated with the MAP2K2 gene, which is involved in the ras/MAPK signaling pathway. Changes in this gene can lead to cardiofaciocutaneous syndrome, a rare genetic syndrome characterized by various developmental and health issues.

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Genetic tests listed in the GTR related to the MAP2K2 gene include:

  • Sequence analysis of the MAP2K2 gene
  • Deletion/duplication analysis of the MAP2K2 gene
  • Full gene sequencing of the MAP2K2 gene
  • Multiple gene panel testing that includes the MAP2K2 gene

These tests aim to identify variant changes or mutations within the MAP2K2 gene, which can help diagnose cardiofaciocutaneous syndrome and provide valuable information for medical management and genetic counseling.

In addition to the GTR, other databases and resources such as OMIM, PubMed, and scientific articles provide further information on the MAP2K2 gene, its role in the ras/MAPK signaling pathway, and its association with various diseases and syndromes.

Healthcare professionals and researchers can refer to these resources to stay updated with the latest research and findings related to the MAP2K2 gene. This information is crucial for understanding the genetic basis of diseases and developing effective diagnostic and treatment strategies.

Furthermore, the GTR also serves as a platform for referencing additional tests and resources for various genetic conditions, beyond just the MAP2K2 gene and cardiofaciocutaneous syndrome. These tests may involve other genes and variant changes associated with different diseases and syndromes.

By cataloging and organizing information on genetic tests, the GTR helps streamline the process of genetic testing and enables easy access to resources for healthcare professionals and patients.

Scientific Articles on PubMed

The MAP2K2 gene, also known as NAVA gene, is a key gene involved in the signaling pathway of the Ras/MAPK (mitogen-activated protein kinases) cascade. This pathway plays a critical role in regulating cell growth, proliferation, and differentiation. Mutations in the MAP2K2 gene have been found to cause a number of genetic diseases and syndromes, including cardiofaciocutaneous syndrome.

PubMed is a database that provides access to a vast number of scientific articles, clinical studies, and other related resources in the field of health and genetics. Searching PubMed for articles on the MAP2K2 gene yields a comprehensive catalog of references, including scientific articles, clinical trials, and genetic testing information.

By searching PubMed, researchers and healthcare professionals can access additional information on the MAP2K2 gene and its role in various diseases and conditions. They can also find information on the genetic changes and protein variants associated with the gene, as well as testing resources and registry databases for specific syndromes.

The PubMed database lists a wide range of scientific articles related to the MAP2K2 gene and its signaling pathway. These articles cover topics such as the molecular mechanisms of MAP2K2 gene function, its role in disease development, and potential therapeutic targets for diseases associated with defects in this gene.

One example of a related syndrome is cardiofaciocutaneous syndrome, which is caused by mutations in the MAP2K2 gene. PubMed provides access to scientific articles and clinical studies on this syndrome, including information on the clinical presentation, genetic testing methods, and potential treatment options.

In addition to scientific articles, PubMed also includes references to other resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic conditions and their associated genes, including the MAP2K2 gene.

Overall, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles and other related information on the MAP2K2 gene and its role in various diseases and conditions. The database offers a comprehensive catalog of references and resources, making it an essential tool for those working in the field of genetics and health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to the mitogen-activated protein kinase (MAPK) signaling pathway.

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OMIM, short for Online Mendelian Inheritance in Man, is a widely used and authoritative online resource that catalogues genetic information and related clinical and scientific articles.

The catalog includes the names of genes and proteins, variant changes, testing resources, and information on diseases and conditions associated with the MAPK signaling pathway. It also provides references to other databases, scientific articles, and the OMIM registry for more detailed information and further research.

One of the syndromes listed in the catalog is the cardiofaciocutaneous syndrome (CFC). CFC is a rare genetic disorder characterized by changes in multiple genes involved in the RAS-MAPK pathway. The syndrome affects various parts of the body, including the skin, face, and cardiovascular system.

To support genetic testing for MAP2K2 gene-related conditions, OMIM offers additional resources such as laboratory tests and testing guidelines. These resources aim to assist healthcare professionals and researchers in the diagnosis and management of these diseases.

Overall, the Catalog of Genes and Diseases from OMIM provides valuable information for understanding the role of MAP2K2 gene and related genes in health and disease. It serves as a comprehensive and reliable resource for geneticists, clinicians, and researchers working in the field of genetic and molecular biology.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the MAP2K2 gene and its related variants. These databases provide a wealth of information about the genetic changes associated with this gene, as well as associated syndrome, diseases, and conditions.

One example of a gene and variant database is the NAVA. This registry provides comprehensive information on the MAP2K2 gene, its related kinases, and the various changes in the gene that have been identified. It also lists genes and variants associated with other cardiovascular, facio-cutaneous, and neurological conditions.

Another valuable database is the OMIM. This comprehensive catalog of genes and genetic disorders provides information on the MAP2K2 gene, as well as other genes involved in the ras/mapk signaling pathway. It includes links to scientific articles, clinical resources, and testing information.

In addition to these databases, there are also other resources available for researchers and clinicians. PubMed, for example, provides access to a vast collection of scientific articles related to the MAP2K2 gene and its variants. This database can be used to find additional information on specific conditions and to stay up-to-date on the latest research.

Overall, gene and variant databases provide a wealth of information and resources for researchers and clinicians studying the MAP2K2 gene. These databases offer detailed information on the protein and its signaling pathway, as well as references to scientific articles and clinical testing information.

References

  • Nava C, et al. (2007). Cardiofaciocutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 44(12):763-71. PubMed PMID: 17400653.
  • Gripp KW, et al. (2007). Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps distinguish cardio-facio-cutaneous syndrome from other clinically related disorders. Am J Med Genet A. 143A(14):1472-80. PubMed PMID: 17523167.
  • OMIM (Online Mendelian Inheritance in Man). MAP2K2 gene. https://www.omim.org/entry/601263. Accessed May 12, 2021.
  • Genetic Testing Registry. MAP2K2. https://www.ncbi.nlm.nih.gov/gtr/genes/5604/. Accessed May 12, 2021.
  • ClinVar. MAP2K2 gene. https://www.ncbi.nlm.nih.gov/clinvar/?term=MAP2K2%5Bgene%5D. Accessed May 12, 2021.
  • NIH Genetic Testing Registry. MAP2K2. https://www.ncbi.nlm.nih.gov/gtr/tests/547172/. Accessed May 12, 2021.
  • Catalog of Genes and Diseases. MAP2K2. https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/search/gene/84152. Accessed May 12, 2021.
  • PubMed. MAP2K2 gene. https://pubmed.ncbi.nlm.nih.gov/?term=MAP2K2+gene. Accessed May 12, 2021.
  • National Center for Advancing Translational Sciences. Cardiofaciocutaneous syndrome. https://rarediseases.info.nih.gov/diseases/3834/cardiofaciocutaneous-syndrome. Accessed May 12, 2021.