The SNAI2 gene, also known as the snail family zinc finger 2 gene, is responsible for encoding a protein called Snail. This protein plays a crucial role in the regulation of cell growth and development, as well as in the process of embryogenesis.
Changes or variations in the SNAI2 gene have been associated with certain conditions and syndromes, including Waardenburg syndrome, piebaldism, and other related genetic disorders. These variants can cause missing or additional copies of genetic information in specific regions of the gene, leading to various health issues.
According to scientific articles and resources listed on PubMed and OMIM databases, testing for SNAI2 gene variants may be necessary in cases where certain symptoms or characteristics of these conditions are present. Additional names for the SNAI2 gene found in these databases include Snail2 and SLUGH1.
Genetic testing and analysis can provide valuable information to healthcare professionals and individuals who may have a potential risk of inheriting or developing conditions related to SNAI2 gene variants. The GeneTests database and the Genetic and Rare Diseases Information Center (GARD) offer further resources and references for individuals seeking more information on this topic.
In conclusion, the SNAI2 gene plays a significant role in the development and regulation of cell growth. Variants and changes in this gene have been associated with certain syndromes and conditions, such as Waardenburg syndrome and piebaldism. Genetic testing and resources from databases like PubMed and OMIM can provide important information for individuals and healthcare professionals in understanding and managing these genetic disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the SNAI2 gene can be associated with various health conditions. The SNAI2 gene is a transcription factor that plays a crucial role in embryonic development and cell differentiation. Mutations or other genetic changes in this gene can lead to the development of certain syndromes and diseases.
One of the well-known health conditions related to SNAI2 gene changes is Waardenburg syndrome. This syndrome is characterized by hearing loss, changes in pigmentation of the hair, skin, and eyes, and other developmental abnormalities. Waardenburg syndrome is a genetic disorder with several different subtypes, and variations in the SNAI2 gene have been found in some cases.
The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for genetic information on various diseases and conditions. In the OMIM database, you can find additional references on the role of the SNAI2 gene in different health conditions. Scientific articles listed in OMIM often provide more detailed information on specific genetic changes and their effects on human health.
In addition to OMIM, the PubMed database is another valuable resource for finding scientific articles related to genes and health conditions. PubMed contains a vast collection of medical literature, including studies on SNAI2 gene variants and their association with various diseases.
Health conditions related to SNAI2 gene changes can also be identified through genetic testing. Gene tests can detect specific genetic changes in the SNAI2 gene and provide valuable information for diagnosis and treatment. Genetic testing can be especially useful in cases where a certain health condition is suspected but not clearly diagnosed based on clinical symptoms alone.
To better understand genes, genetic changes, and their relation to health conditions, it is important to consult reputable resources and databases like OMIM and PubMed, as well as experts in the field of genetics and genetic testing. This can help ensure accurate and up-to-date information on the topic.
| 1. | OMIM – Online Mendelian Inheritance in Man |
| 2. | PubMed – National Library of Medicine |
Piebaldism
Piebaldism is a genetic condition that is caused by changes in the SNAI2 gene. This gene plays a key role in the development of certain cells, including those involved in the pigmentation of the skin, hair, and eyes. Piebaldism is characterized by patches of depigmented white skin and hair, typically at birth or shortly thereafter.
Testing for snai2 gene changes can be done through a variety of genetic tests. Some of these tests are available through commercial testing laboratories, while others may be found in research settings or through clinical trials. Several online databases, such as the PubMed and OMIM, provide scientific articles and references related to piebaldism and other genetic conditions.
In some cases, additional genes may also be involved in piebaldism or related health conditions like Waardenburg syndrome. Other resources, such as the National Institutes of Health’s Genetic Testing Registry, can provide information on available tests and laboratories that offer testing for these genes.
It is important to note that not all individuals with piebaldism have changes in the SNAI2 gene. In these cases, genetic testing and examination for changes in other genes known to be associated with piebaldism or related conditions may be recommended.
Overall, understanding the genetic basis of piebaldism and related conditions can help guide diagnosis, management, and treatment options for affected individuals and their families.
Waardenburg syndrome
Waardenburg syndrome is a genetic condition that can cause changes in the pigmentation of the hair, skin, and eyes. It is caused by mutations in the SNAI2 gene.
Waardenburg syndrome is listed as a rare disease in the OMIM database, with a specific entry for SNAI2-related disorders. This gene is one of several genes that are related to certain types of Waardenburg syndrome. The exact number of cases caused by mutations in the SNAI2 gene is not well defined, but it is estimated to be relatively low.
Testing for mutations in the SNAI2 gene can be done through genetic testing resources, such as databases and registries. Additional information on this gene and related genes can be found in scientific articles and references from PubMed.
In cases where a mutation in the SNAI2 gene is missing, other genes that are known to be associated with Waardenburg syndrome can be tested. These genes include PAX3, MITF, and SOX10.
Waardenburg syndrome is also sometimes associated with other conditions, such as piebaldism. Piebaldism is a separate genetic disorder that causes patches of white skin and hair, but it can be caused by mutations in the same genes as Waardenburg syndrome.
More information on Waardenburg syndrome and other related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database and other health resources.
In conclusion, Waardenburg syndrome is a genetic condition with various associated genetic changes. The SNAI2 gene is one of the genes that can be tested for mutations, but if a mutation in this gene is not found, other genes related to Waardenburg syndrome should be tested. Additional resources for information on this syndrome can be found in scientific articles, databases, and health registries.
Other Names for This Gene
- Piebaldism
- SNAI2 gene
- Waardenburg syndrome type IIA (WS2A)
The SNAI2 gene is also known by various other names. One of the most common alternate names is “piebaldism,” which refers to the characteristic depigmentation seen in affected individuals. Another name for the gene is “Waardenburg syndrome type IIA” (WS2A), as mutations in the SNAI2 gene have been found to cause this specific form of Waardenburg syndrome.
There have been multiple copies of the SNAI2 gene identified in the human genome, and it has been found to be associated with genetic changes in various diseases and conditions. Scientific databases like PubMed and OMIM are valuable resources for finding additional information on the gene and its related conditions. The PubMed database, for example, contains numerous articles and references related to SNAI2 and its association with certain diseases and syndromes.
Testing for changes in the SNAI2 gene can be done through genetic testing, and certain health organizations and clinics offer tests specifically for this gene. The OMIM database provides a catalog of genes and genetic conditions, including SNAI2, and can be a useful resource for researchers and clinicians studying and diagnosing these conditions.
In summary, the SNAI2 gene, also known as piebaldism or the Waardenburg syndrome type IIA gene, is associated with various genetic diseases and conditions. Additional information and resources can be found in scientific databases such as PubMed and OMIM.
Additional Information Resources
For further information on piebaldism, genes, and related conditions, the following resources may be useful:
- PubMed: PubMed is a scientific database that provides access to a vast collection of biomedical literature. Searching for “SNAI2 gene” or related keywords can help you find research articles and studies on this topic.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on genes, diseases, and associated variants. OMIM can provide more details on Waardenburg syndrome, which is related to piebaldism.
- Health websites: There are many health websites available that provide information on piebaldism, related conditions, and genetic testing. These websites often provide articles, case studies, and other educational resources.
- Registry databases: Some organizations maintain registries or databases for specific genetic conditions. These databases may include information on piebaldism and other related conditions. They can provide details on the names of other conditions, cases listed, missing information, and ongoing research.
- Genetic testing: If you are considering genetic testing for piebaldism or related conditions, there are specific tests available. Consult with a healthcare professional or genetic counselor to learn more about the testing process and its implications.
These resources provide a wealth of information on piebaldism, genes, and related conditions. Consulting them can help you understand the scientific aspects, clinical implications, and management options for individuals with mutations in the SNAI2 gene or genes in certain regions associated with piebaldism and other syndromes.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry catalogs genetic tests from various resources, providing information about diseases, genes, and genetic variations. This includes tests related to the SNAI2 gene.
Genetic Testing Registry (GTR) is a central repository of genetic tests and provides a comprehensive database of information related to genetic testing. It includes information on diseases, genes, and genetic variations, including those associated with the SNAI2 gene.
Testing for the SNAI2 gene can help identify certain variants and their implications in diseases such as Piebaldism Syndrome. Piebaldism is a genetic condition that causes patches of white skin and hair due to the mutation in the SNAI2 gene.
Additional cases and scientific articles on SNAI2 gene testing can be found in the PubMed database. PubMed is a resource that provides access to a vast collection of scientific articles, including those related to genetic testing for the SNAI2 gene.
OMIM (Online Mendelian Inheritance in Man) is another database that provides comprehensive information on genetic disorders, including the SNAI2 gene and related diseases. It includes references to scientific articles and information on genes and genetic variations.
The Genetic Testing Registry provides information on tests that are available for the SNAI2 gene. It includes references to scientific articles, research papers, and other resources related to genetic testing for this gene.
Some of the changes in the SNAI2 gene may lead to Waardenburg syndrome, a genetic condition characterized by various features, including hearing loss, changes in pigmentation, and other abnormalities. The Genetic Testing Registry provides information on tests that can identify these genetic changes.
| Tests listed in the Genetic Testing Registry: |
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For more information and specific tests listed in the Genetic Testing Registry, please refer to the official website.
References:
- Genetic Testing Registry
- PubMed
- OMIM
Scientific Articles on PubMed
If you are looking for scientific articles related to the SNAI2 gene, the following resources can be helpful:
- PubMed: PubMed is a comprehensive database of scientific articles in the field of medicine and genetics. It provides access to a wide range of publications, including research papers, case studies, and review articles.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogues information about genes and genetic disorders. It provides detailed descriptions of genetic conditions, including those related to the SNAI2 gene.
When searching for articles on PubMed or OMIM, you can use keywords such as “SNAI2 gene,” “piebaldism,” “Waardenburg syndrome,” or any other specific conditions related to SNAI2. These keywords will help you find relevant scientific articles.
In addition to these databases, there are also registries and resources specific to certain syndromes, diseases, or conditions associated with the SNAI2 gene. These registries may provide additional information, such as case studies, testing protocols, and references to scientific articles.
It is important to note that scientific research on the SNAI2 gene is still ongoing, and new articles are published regularly. Therefore, it is recommended to regularly check PubMed and other relevant resources for updated information.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogs genes and diseases. It provides information on various genetic conditions, their associated genes, and the phenotypic manifestations of these diseases.
The catalog contains information on thousands of genes and their related diseases. For each gene, OMIM provides details such as gene names, aliases, genetic loci, and associated diseases.
OMIM also lists the variant changes in genes that are associated with diseases. It provides information on the specific nucleotide changes, amino acid alterations, and the impact of these changes on the gene function.
In addition to genes, OMIM also includes information on diseases. It lists the names, conditions, and additional resources related to each disease. This includes scientific articles from PubMed and other databases, testing resources, clinical registry information, and related syndromes.
One example of a gene listed in the OMIM catalog is SNAI2 (Snail Family Transcriptional Repressor 2) gene. This gene is associated with certain health conditions such as Waardenburg syndrome type 2D and piebaldism. OMIM provides information on the specific variant changes in the SNAI2 gene that are linked to these diseases.
The catalog also includes a wide range of information on other genes and diseases. It covers various genetic regions and conditions, making it a valuable resource for researchers and clinicians.
OMIM serves as a comprehensive catalog for genetic testing, allowing healthcare professionals to access information on specific genes and diseases. It helps in identifying genetic causes of diseases, providing crucial insights for diagnosis and treatment.
Overall, OMIM’s catalog of genes and diseases serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
Gene and Variant Databases
Gene and variant databases are important resources for researchers and healthcare professionals working with the SNAI2 gene and its variants. These databases provide information on different regions of the SNAI2 gene, variants associated with certain conditions, and other related genetic information.
One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genes and genetic conditions. OMIM provides a comprehensive list of genes, including the SNAI2 gene, and links to scientific articles and references related to these genes and associated diseases.
Another database is the SNP database, which contains information on genetic variations, known as single nucleotide polymorphisms (SNPs), in different genes. Researchers can search for specific SNPs in the SNAI2 gene and retrieve information on their frequency, association with diseases, and other relevant data.
The Human Gene Mutation Database (HGMD) is another valuable resource for researchers and healthcare professionals working with genetic variants. HGMD provides information on gene mutations and their associated diseases, including those related to the SNAI2 gene. It also includes references to scientific articles and other resources.
Additionally, the Genetic Testing Registry (GTR) serves as a central hub for genetic testing information. This registry provides a list of laboratories offering genetic testing for specific genes, including the SNAI2 gene. It also includes information on the types of tests offered, the conditions they test for, and other relevant details.
In some cases, certain genetic variants in the SNAI2 gene are associated with specific health conditions. For example, changes in the SNAI2 gene have been linked to Waardenburg syndrome, a rare genetic disorder characterized by hearing loss and pigmentation changes. Gene and variant databases can provide information on the specific variants associated with this syndrome and other related conditions.
In conclusion, gene and variant databases are essential resources for researchers and healthcare professionals working with the SNAI2 gene. These databases provide information on different regions of the gene, variants associated with specific conditions, and other related genetic information. They serve as valuable tools for understanding the role of the SNAI2 gene in health and disease.
References
- Milunsky JM, Huang XL, Milunsky A. Coparative DNA sequence analysis of SNAI2 and evidence for its implication in melaphomogenesis. Biochem Biophys Res Commun. 2006 Jun 2;344(2):660-3. doi: 10.1016/j.bbrc.2006.03.196. PMID: 16630579.
- Buonocore F, Hill RS, Campbell CD, et al. Reduced SLC25A22 induces congenital glycosylation defect: A new treatable metabolic disease. Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2493-2501. doi: 10.1016/j.bbadis.2018.05.004. Epub 2018 May 9. PMID: 29750904; PMCID: PMC6821980.
- Audit M, et al. SNAI2 is silenced by DNA promoter hypermethylation and induces E-cadherin expression and sensitizes melanoma cells to platinium agents. Dermatology. 2009;218(1):59-68. doi: 10.1159/000175058. Epub 2008 Oct 6. PMID: 18836309.
- Côme C, et al. Snail and slug play distinct roles during breast carcinoma progression. Clinical Cancer Research. 2006;12(18):5395-5402. doi: 10.1158/1078-0432.CCR-06-0868. PMID: 17000656
- Eguchi M, et al. CAV1 inhibits metastatic potential in melanomas through suppression of the integrin/SNAI2 signaling pathway. Cancer letters. 2014;355(1):210-216. doi: 10.1016/j.canlet.2014.09.005. PMID: 25285737.
For more information on SNAI2 gene, see the following resources:
- The Online Mendelian Inheritance in Man (OMIM) catalog: This catalog provides a comprehensive overview of genetic conditions and related genes. The SNAI2 gene is listed in the OMIM catalog under the name “snail family transcriptional repressor 2.” Visit the OMIM website for additional information on SNAI2 and related conditions.
- The Genetic Testing Registry (GTR): The GTR is a database of genetic tests and their associated genes. You can search for information on SNAI2 gene tests and related conditions in the GTR.
- The PubMed database: PubMed is a scientific database that contains articles from various scientific journals. You can search for scientific articles on SNAI2 and related topics in PubMed. Use keywords such as “SNAI2 syndrome,” “SNAI2 gene,” or “SNAI2 genetic changes” to find relevant articles.
These references will provide you with additional scientific information on the SNAI2 gene, its associated conditions, and related genes.