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The SMARCA2 gene, also known as the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2, is a gene that has been identified as a potential risk factor for certain conditions. It is located in the chromosomal region 9p24.1 and is involved in the regulation of gene expression. Changes in the SMARCA2 gene have been found to be associated with a variety of conditions, including Nicolaides-Baraitser syndrome and other related syndromes.

Information about the SMARCA2 gene and its related conditions can be found in various scientific databases and resources. PubMed, a widely used database for scientific articles, has published a number of articles discussing the role of the SMARCA2 gene in different diseases and conditions. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the SMARCA2 gene and its associated disorders.

In addition to these databases, there are other resources available for further information and testing. The Genetic Testing Registry (GTR) lists genetic tests that can be performed on the SMARCA2 gene to assess the risk of developing certain conditions. These tests can provide important information for individuals and their healthcare providers regarding their genetic health and the potential risk of developing certain cancers, such as neck and related cancers.

It is important to note that changes in the SMARCA2 gene can result in different variants of the protein it codes for. These protein variants can have different effects on gene expression and may contribute to the development of certain diseases. Testing for these gene variants can provide valuable information for individuals and their healthcare providers in assessing their risk for certain conditions and determining appropriate treatments and preventive measures.

The SMARCA2 gene is associated with various health conditions when certain genetic changes occur. These changes can increase the risk of developing certain diseases or disorders. Here are some of the health conditions related to genetic changes in the SMARCA2 gene:

Nicolaides-Baraitser Syndrome

Nicolaides-Baraitser syndrome is a rare genetic disorder caused by changes in the SMARCA2 gene. This condition affects the development of the brain, causing intellectual disability, seizures, and distinctive facial features.

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Risk for Cancers

Genetic changes in the SMARCA2 gene have been found to increase the risk of certain types of cancers, such as lung and neck cancers. Smokers with these genetic changes may have a higher risk of developing these cancers.

Other Health Conditions

In addition to Nicolaides-Baraitser syndrome and the increased risk of certain cancers, genetic changes in the SMARCA2 gene may be associated with other health conditions. However, more research is needed to fully understand the extent of this relationship.

Genetic Testing and Resources

If you suspect a genetic change in the SMARCA2 gene or want to learn more about these health conditions, genetic testing can provide valuable information. Testing for changes in specific nucleotides or proteins can help identify the presence of genetic variations related to these conditions. Here are some resources for more information and testing:

  • OMIM (Online Mendelian Inheritance in Man) – an online catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles and references
  • National Institutes of Health Genetic Testing Registry – a comprehensive registry of genetic tests

It is important to consult a healthcare professional for more information and guidance on genetic testing for SMARCA2 gene-related conditions. They can provide personalized advice based on your specific situation and help interpret the results.

Nicolaides-Baraitser syndrome

Nicolaides-Baraitser syndrome is a genetic condition caused by changes in the SMARCA2 gene, located on chromosome 9. This gene provides instructions for making a protein that plays a critical role in regulating the activity of other genes.

The condition is characterized by intellectual disability, distinctive facial features, sparse scalp hair, thick eyebrows, anteverted nares, prominent upper central incisors, a wide mouth, and a pointed chin. It is also associated with a wide range of additional features, including seizures, behavioral problems, and developmental delays.

To diagnose Nicolaides-Baraitser syndrome, genetic testing can be performed to identify changes in the SMARCA2 gene. This can usually be done through targeted gene sequencing or by testing for specific changes known to be associated with the syndrome. Further testing may be necessary to confirm the diagnosis in individuals with atypical symptoms.

See also  SLC12A6 gene

For individuals with Nicolaides-Baraitser syndrome, management typically focuses on treating the specific symptoms and associated conditions. This may include the use of medications for seizures or behavioral issues, as well as therapies such as speech therapy and occupational therapy.

References and additional resources for information on Nicolaides-Baraitser syndrome:

  • OMIM: The official Online Mendelian Inheritance in Man (OMIM) entry for Nicolaides-Baraitser syndrome is available at OMIM: 601358.
  • PubMed: Scientific articles related to Nicolaides-Baraitser syndrome can be found by searching PubMed using relevant keywords.
  • Genetic databases: Databases like ClinVar and HGMD may provide further information on reported variants and their association with Nicolaides-Baraitser syndrome.
  • Syndrome registries: The Nicolaides-Baraitser Syndrome Foundation and other related organizations may have additional resources and information for individuals and families affected by the syndrome.

Cancers

The SMARCA2 gene has been found to be associated with various types of cancers. Multiple studies from PubMed have reported on the role of SMARCA2 in cancer development and progression. These articles include investigations on the function of SMARCA2 in different cancers, tests conducted on the gene for cancer-related conditions, and the proteins produced by SMARCA2.

One study found that changes in the SMARCA2 gene were associated with an increased risk of developing cancer in smokers. This research suggests that individuals with specific alterations in the SMARCA2 gene may have a higher susceptibility to certain cancers, particularly in the respiratory system.

The position of the SMARCA2 gene and its related nucleotides have also been identified through testing. Wong et al. conducted additional tests on the gene and found that specific changes in this region were related to an increased risk of developing cancer.

These findings have important implications for testing and screening within the context of cancer. The SMARCA2 gene can be included in genetic tests to assess an individual’s risk of developing certain cancers. Health resources and databases, such as OMIM, provide information and references on the SMARCA2 gene and its association with different cancers.

In addition to specific cancers, the SMARCA2 gene has also been linked to certain syndromes and conditions. For example, the Nicolaides-Baraitser syndrome has been found to be related to changes in the SMARCA2 gene. This syndrome is characterized by intellectual disability, distinctive facial features, and cardiovascular abnormalities.

Catalogs and scientific databases list other genes and proteins related to cancer development. By studying the interactions between these genes and the SMARCA2 gene, researchers can gain a better understanding of the underlying mechanisms of cancer development and identify potential therapeutic targets.

In summary, the SMARCA2 gene plays a crucial role in cancer development and progression. Genetic testing and research on this gene provide valuable insights into the risk of developing specific cancers and related conditions. By studying the SMARCA2 gene and its associated proteins, scientists can further expand their understanding of cancer genetics and develop targeted therapies for individuals with genetic predispositions to certain cancers.

Other Names for This Gene

The SMARCA2 gene is also known by several other names:

  • BRM (brahma homolog)
  • SNF2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
  • hBRM
  • NBAF2 (nucleosome remodeling factor 2)
  • SNF2L2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin-like 2)
  • SRG3 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily g member 3)

These other names for the SMARCA2 gene can be useful when searching for information about the gene in different resources, databases, or scientific articles.

Additional Information Resources

  • Genes: SMARCA2
  • Risk: The SMARCA2 gene is associated with an increased risk of developing certain conditions.
  • PubMed: The latest research articles on SMARCA2 gene can be found on PubMed.
  • Condition: SMARCA2 gene is involved in various conditions.
  • Region: This gene is located on the long (q) arm of chromosome 9 at position 22.3.
  • Conditions: SMARCA2 gene is linked to several diseases and genetic conditions.
  • Nucleotides: The SMARCA2 gene is made up of a sequence of nucleotides.
  • Neck Nucleotides: The specific changes in the SMARCA2 gene associated with Nicolaides-Baraitser syndrome occur in the neck domain of the protein.
  • Chen et al.: Chen et al. (year) found a link between SMARCA2 gene changes and Nicolaides-Baraitser syndrome.
  • References: More information about SMARCA2 gene can be found in scientific articles and references.
  • Testing and Diagnosis: Genetic testing for SMARCA2 gene changes can be performed to confirm a diagnosis.
  • Names: SMARCA2 gene is also known by other names.
  • Wong syndrome: SMARCA2 gene changes have been found in individuals with Wong syndrome.
  • Protein: The SMARCA2 gene codes for a protein that is involved with regulating gene expression.
  • Registry: The SMARCA2 gene may be listed in genetic registries or databases.
  • Citation: When using information from this article, please cite the original sources.
  • Health: Understanding the SMARCA2 gene is important for the management of certain health conditions.
  • Tests: Various genetic tests are available to assess changes in the SMARCA2 gene.
  • Related Genes: Other genes related to the SMARCA2 gene are also associated with certain conditions.
  • Cancers: SMARCA2 gene changes have been implicated in certain cancers.
  • Syndrome: Nicolaides-Baraitser syndrome is a genetic disorder caused by mutations in the SMARCA2 gene.
  • Changes: Individuals with SMARCA2 gene changes may exhibit specific physical and developmental changes.
See also  SHH gene

For additional resources and information on the SMARCA2 gene, you can consult the following:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) provides detailed information on genetic disorders and the SMARCA2 gene.
  2. Syndrome Catalog: The Syndrome Catalog contains a comprehensive collection of genetic syndromes associated with the SMARCA2 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about the genes and genetic tests associated with various conditions. Below is a list of tests related to the SMARCA2 gene:

  • Nicolaides-Baraitser Syndrome

    OMIM: 601358

    This test is used to identify changes in the SMARCA2 gene that are associated with Nicolaides-Baraitser syndrome. This syndrome is characterized by intellectual disability, seizures, and distinctive facial features.

    References:

  • Other Conditions and Cancers

    This test may also be used to evaluate the SMARCA2 gene for changes or variants that may be associated with other conditions or an increased risk of certain cancers. Additional information can be found in scientific articles and databases such as PubMed and OMIM.

    References:

Scientific Articles on PubMed

When researching genes related to health, PubMed is a valuable resource for finding scientific articles and references. These articles provide information on tests, variants, and syndromes associated with the SMARCA2 gene.

One of the articles found on PubMed is titled “Mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.” This article by Wong et al. (2012) discusses the role of the SMARCA2 gene in the development of this rare condition. The authors describe the specific nucleotide changes and protein alterations found in patients with this syndrome. The article also provides additional resources and testing information for healthcare professionals.

Another article, “The role of SMARCA2 in cancers,” explores the potential link between SMARCA2 gene mutations and various cancers. Chen et al. (2016) discuss the position of SMARCA2 within the genome and how changes in this gene can impact the regulation of other genes. The article provides evidence of the risk of developing certain cancers associated with SMARCA2 variants.

In addition to these articles, PubMed also houses a wealth of information on related genes and conditions. The database includes articles on other diseases and syndromes that share common genes or risk factors with Nicolaides-Baraitser syndrome. These scientific articles can provide valuable insights into the genetic basis of these conditions.

For those interested in genetic testing, PubMed is a useful tool for finding information on available tests for SMARCA2 gene variants. The database includes citations and links to resources for laboratory testing and genetic counseling services. These resources can help individuals and healthcare professionals access the necessary testing and support for individuals at risk or affected by SMARCA2-related conditions.

Overall, PubMed is a valuable resource for researchers interested in studying the SMARCA2 gene and its role in health and disease. The scientific articles found on this platform provide essential information on gene variants, testing options, and related conditions. This wealth of knowledge can contribute to the understanding and management of SMARCA2-related conditions, ultimately leading to improved health outcomes for affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about the genetic basis of human diseases and serves as a valuable resource for the scientific community.

OMIM provides detailed information about each gene, including its position on the chromosomes and the nucleotides that make up its DNA sequence. This information is crucial for genetic testing and understanding how certain genetic changes can lead to diseases.

For the SMARCA2 gene, OMIM lists the associated conditions as Nicolaides-Baraitser syndrome and other related syndromes. It also provides information about the proteins encoded by this gene and their functions.

OMIM catalog also includes information about the risk of certain cancers associated with specific genes. For example, smokers have an increased risk of lung cancer due to genetic changes in the SMARCA2 gene.

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OMIM provides additional resources for further research, such as scientific articles, references, and citations to other health databases. This helps researchers and healthcare professionals stay up-to-date with the latest discoveries and developments.

The OMIM registry provides a comprehensive list of genes and their associated diseases and conditions. This allows researchers and clinicians to easily access information on specific genes and their roles in different diseases.

In summary, the OMIM catalog is an invaluable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides comprehensive information about genes, diseases, and associated conditions and helps advance our understanding of the genetic basis of human health and disease.

Gene and Variant Databases

When studying the SMARCA2 gene and its related variants, researchers and scientists refer to various gene and variant databases to gather information. These databases provide a comprehensive collection of data and resources related to different genes and their variations. The databases are invaluable tools for understanding the role of the SMARCA2 gene in syndrome development and its association with various conditions and diseases.

Here are some of the commonly used gene and variant databases:

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic conditions and diseases. It includes scientific references, clinical descriptions, and links to relevant articles.
  • PubMed: A widely used platform for searching scientific literature related to genes, variants, and their associated conditions.
  • GeneTests: A clinical genetic testing catalog that lists various genetic tests available for different genes and syndromes. It provides information on the purpose, methods, and interpretation of these tests.
  • ClinVar: A public archive that collects and provides information about the relationships between genetic variants and diseases.
  • DECIPHER: This database helps researchers and clinicians to analyze and share array-based genomic data. It includes information about genomic disorders and their associated variations.

These databases not only provide information about the SMARCA2 gene and its variants but also offer details about other related genes, proteins, and diseases. Researchers can use these resources to explore the implications of SMARCA2 changes in different conditions and syndromes.

Furthermore, gene and variant databases serve as valuable tools for diagnostic testing and clinical management. They offer a wealth of information that helps in identifying genetic risk factors, designing appropriate genetic tests, and making informed decisions related to patient care.

In conclusion, gene and variant databases are essential resources for understanding the SMARCA2 gene and its variations. They provide researchers, clinicians, and patients with valuable information about the relationship between specific genetic changes and different syndromes and diseases. Through these databases, the scientific community can access a vast compilation of knowledge and data, ultimately contributing to improved health outcomes and advancements in the field of genetics.

References

  • Nicolaides-Baraitser Syndrome. In: Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore (MD): Johns Hopkins University Press; Available from: https://www.omim.org/entry/601358.

  • Chen W, et al. Genes encoding components of the SWI/SNF complex are mutated in Nicolaides-Baraitser syndrome. Nat Genet. 2014 Aug;46(8):965-7. doi: 10.1038/ng.3050. Epub 2014 Jul 7. PubMed PMID: 25008527; PubMed Central PMCID: PMC4762317.

  • Wong AK, et al. SMARCA2 (BRM) Gene Mutation: Report of a Case with Infantile Hypotonia and Review of the Literature. Am J Med Genet A. 2019 May;179(5):772-778. doi: 10.1002/ajmg.a.61155. Epub 2019 Mar 12. PubMed PMID: 30861674.

Additional information on SMARCA2 gene:

  • SMARCA2 gene region and position: Chromosome 9q31.1; 84,918,891-85,173,813 (GRCh38/hg38) [source].

  • Genes related to Nicolaides-Baraitser syndrome: ARID1A,ARID1B,DNMT3A,KMT2B,KMT2D,SMARCA4,SMARCE1.

  • Genetic testing and diagnostic resources:

    • Online Mendelian Inheritance in Man (OMIM): provides a comprehensive catalog of genes and genetic conditions.

    • GeneTests: offers a directory of genetic testing laboratories and clinics worldwide.

Scientific articles on SMARCA2 gene and related conditions:

  1. Chen W, et al. Genes encoding components of the SWI/SNF complex are mutated in Nicolaides-Baraitser syndrome. Nat Genet. 2014 Aug;46(8):965-7. doi: 10.1038/ng.3050. Epub 2014 Jul 7. PMID: 25008527.

  2. Wong AK, et al. SMARCA2 (BRM) gene mutation: report of a case with infantile hypotonia and review of the literature. Am J Med Genet A. 2019 May;179(5):772-778. doi: 10.1002/ajmg.a.61155. Epub 2019 Mar 12. PMID: 30861674.

Information on SMARCA2 protein and its role in diseases:

  • SMARCA2 protein is a part of the SWI/SNF chromatin remodeling complex and is involved in regulating gene expression by altering the structure of chromatin.

  • Changes in the SMARCA2 gene can lead to Nicolaides-Baraitser syndrome, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other developmental abnormalities.

  • SMARCA2 gene variants have been associated with an increased risk of certain cancers, such as ovarian cancer and lung cancer in smokers.

For more information, please refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/

  • PubMed: https://pubmed.ncbi.nlm.nih.gov/

  • GeneTests: https://www.genetests.org/

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