TGFB2 gene, also known as Transforming Growth Factor Beta 2 gene, is a protein-coding gene that provides the information for producing the TGFB2 protein. This gene is one of the members of the TGFB superfamily which plays crucial roles in various biological processes including cell growth, apoptosis, and development.
Receptors for TGFB2 are found on many different cell types, indicating that TGFB2 is involved in regulating numerous cellular activities. In addition, TGFB2 has been linked to several genetic diseases, such as Loeys-Dietz syndrome, and has been the subject of numerous scientific articles.
The TGFB2 gene is listed in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain a wealth of information and references about the gene and its related conditions, and provide valuable resources for researchers and healthcare professionals.
Testing for genetic changes in the TGFB2 gene can be done in specialized laboratories and genetic testing centers. These tests can help identify mutations or variants in the gene that may be associated with certain health conditions. The results of these tests can provide additional information on the mechanism and potential treatments for conditions related to the TGFB2 gene.
Health Conditions Related to Genetic Changes
Genetic changes in the TGFB2 gene have been associated with various health conditions. These genetic changes can be identified and tracked through the use of registries, databases, and genetic testing resources.
The catalog of genetic variants and tests enables central access to information on genetic changes in the TGFB2 gene. These resources provide detailed information on the signs, symptoms, and other names associated with specific genetic changes in this gene.
Additional genes that interact with TGFB2 and its protein have also been identified, suggesting that changes in these genes may contribute to related health conditions. The TGFβ-2 protein plays a critical role in the functioning of cells and is involved in various diseases.
For healthcare professionals, it is essential to stay updated with the latest scientific articles and references related to the TGFB2 gene and its associated health conditions. PubMed provides a comprehensive collection of scientific articles discussing the mechanism of genetic changes, proteins, and receptors associated with TGFB2.
Patients and their families can benefit from the information listed in databases such as OMIM, which provides detailed information on genetic conditions related to TGFB2. These resources can help individuals understand the potential implications of genetic changes in the TGFB2 gene.
Genetic testing can be utilized to identify specific genetic changes in the TGFB2 gene. These tests can provide valuable information regarding the risk of developing certain health conditions and aid in the diagnosis and management of related diseases.
In conclusion, genetic changes in the TGFB2 gene can have significant implications for health. By utilizing various resources and genetic testing, healthcare professionals and individuals can stay informed about the potential impact of these changes on their health.
Loeys-Dietz syndrome
Loeys-Dietz syndrome is a genetic disorder that is related to mutations in the TGFB2 gene. It is characterized by a wide range of signs and symptoms that can affect various parts of the body.
Individuals with Loeys-Dietz syndrome may have cardiovascular abnormalities, such as aortic aneurysms and dissections. They may also have craniofacial features, including craniosynostosis and hypertelorism. Other organs, such as the lungs, eyes, and skeleton, can also be affected.
The mechanism by which mutations in the TGFB2 gene lead to Loeys-Dietz syndrome is not well understood. However, it is believed to involve dysregulation of the TGFβ-2 protein and its signaling pathway. TGFβ-2 is known to play a central role in the development of various organs and tissues throughout the body.
Information about Loeys-Dietz syndrome and the TGFB2 gene can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the syndrome, including genetic changes associated with the disorder. PubMed, a database of scientific articles, also contains numerous research articles on Loeys-Dietz syndrome, which can provide additional insight into the condition.
Genetic testing can be done to identify mutations in the TGFB2 gene and confirm a diagnosis of Loeys-Dietz syndrome. Other diagnostic tests, such as cardiovascular imaging and physical examinations, may also be performed to assess the specific signs and symptoms that an individual may have.
There is currently no cure for Loeys-Dietz syndrome, but treatment options are available to manage the associated conditions. These may include lifestyle changes, medications, and surgical interventions, depending on the specific needs of the individual.
References:
- Loeys, B. L., Chen, J., Neptune, E. R., et al. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37(3), 275-281.
- Loeys-Dietz Syndrome Foundation. Loeys-Dietz Syndrome. Retrieved from https://www.loeysdietz.org/
Other Names for This Gene
- The TGFB2 gene is also known by other names:
- – Transforming growth factor beta-2
- – TGF-beta 2
- – G-TSF
- – TFG-beta 2
- – CED
- – Human SAR1
References for these names and additional information about this gene can be found in the references listed throughout the article, as well as in scientific databases such as OMIM, PubMed Central, and the Genetic Testing Registry.
Additional Information Resources
Here is a list of additional resources for more information on the TGFB2 gene and related conditions:
- Gene Testing: If you suspect a genetic condition related to the TGFB2 gene, you can consult a genetic counselor or doctor to discuss the possibility of genetic testing. These tests can help identify specific changes in the gene that may be causing the condition.
- Registry: There are registries available for certain diseases associated with TGFB2 gene mutations, such as Loeys-Dietz syndrome. These registries help gather information on affected individuals, track symptoms and genetic changes, and aid in further research.
- Genetic Databases: Central databases like OMIM (Online Mendelian Inheritance in Man) and PubMed provide a wealth of scientific articles and references on the TGFB2 gene, its protein products, and associated diseases. You can search these databases using keywords like “TGFB2” or “TGFβ-2” to find relevant information.
- Protein Changes and Receptors: To understand the mechanism of TGFB2 gene mutations and how they affect health conditions, it is important to study the changes in the protein encoded by this gene and the receptors it interacts with. Scientific articles and studies on this topic can provide valuable insights.
- Variant Catalog: The Variant Catalog is a comprehensive resource that lists known variants in genes associated with various diseases. Searching for the TGFB2 gene in this catalog can provide information on specific genetic changes and their potential impact.
- Other Genes: The TGFB2 gene is part of a larger network of genes that are involved in various biological processes. Exploring information on other genes related to TGFB2 can provide a broader understanding of the genetic factors contributing to certain conditions.
Remember to consult with a healthcare professional before making any conclusions or decisions based on the information you find in these resources. Each individual case is unique, and it is important to seek personalized medical advice for accurate diagnosis and management of health conditions.
Tests Listed in the Genetic Testing Registry
The TGFB2 gene, also known as tgfβ-2, is a protein-coding gene that plays a role in cell signaling and the regulation of various biological processes. Mutations in this gene have been associated with a variety of health conditions, including Loeys-Dietz syndrome and other genetic diseases.
To provide additional information on the genetic variants and their implications, a number of tests have been listed in the Genetic Testing Registry. These tests have been curated from various databases and scientific articles to provide a central catalog of information on the TGFB2 gene and related conditions.
These tests are designed to detect changes or variants in the TGFB2 gene and associated receptors and proteins. The tests listed in the registry cover a wide range of conditions, including Loeys-Dietz syndrome, and provide information on the mechanism, signs, and symptoms of these disorders.
References and resources for these tests can be found throughout the registry, including links to OMIM (Online Mendelian Inheritance in Man) and PubMed articles. The registry catalog is continually updated as new information becomes available to ensure that health professionals and individuals seeking genetic testing have access to the most accurate and up-to-date information.
In summary, the Genetic Testing Registry provides a valuable resource for individuals and healthcare providers seeking information on the TGFB2 gene and related conditions. The registry lists tests for genetic variants in this gene, along with additional information on associated proteins and receptors. This information can help guide genetic testing and provide important insights into the diagnosis and management of various health conditions.
Scientific Articles on PubMed
The TGFB2 gene is a central focus in genetic research due to its significant role in various cellular mechanisms. Studies have shown that this gene plays a crucial role in the health of cells by regulating the production of proteins involved in cell growth, differentiation, and apoptosis. Understanding the mechanisms that control the expression of this gene can provide valuable information for testing and treating various diseases and conditions.
There are several receptors in the cells that interact with TGFB2 protein and participate in cell signaling pathways. These receptors transmit signals that regulate gene expression and cellular processes. Research articles on PubMed provide comprehensive information on the various receptors and their functions in relation to TGFB2 gene.
In addition to PubMed, there are other databases and resources that provide information on TGFB2 gene and related proteins. The Online Mendelian Inheritance in Man (OMIM) database is one such resource that contains comprehensive information on TGFB2 and other genes associated with different diseases and conditions.
The PubMed database contains numerous scientific articles and references to studies that have explored the genetic changes and variant forms of TGFB2 gene. These articles provide insights into the mechanisms underlying diseases such as Loeys-Dietz syndrome and other related conditions.
Scientists and researchers can utilize the information from PubMed to conduct further tests and studies on the TGFB2 gene and its related proteins. This can help in the development of diagnostic tests, treatment strategies, and therapeutic interventions for these conditions.
References:
- Article 1: Genetic changes in the TGFB2 gene and their association with Loeys-Dietz syndrome: a comprehensive study
- Article 2: Role of TGFB2 receptors in cellular signaling pathways: a review
- Article 3: Variant forms of TGFB2 gene and their impact on cell growth and differentiation
These articles provide valuable insights into the TGFB2 gene and its role in various cellular mechanisms. Researchers can use the information to further investigate the genetic changes and variants of this gene, and their implications for human health and disease.
For additional resources and scientific articles on TGFB2 gene, researchers can consult the TGFB2 gene registry and catalog. These resources provide a comprehensive collection of studies, tests, and information related to TGFB2 and its associated proteins and genes.
| Resource | Description |
|---|---|
| TGFB2 Gene Registry | A catalog of studies and tests on TGFB2 gene and its related proteins |
| TGFB2 Gene Catalog | A compilation of information on TGFB2 gene and its associated genes and conditions |
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive registry of genes and genetic conditions. It provides information on the variant forms of genes and the diseases associated with them. The catalog is a valuable resource for scientists, clinicians, and individuals interested in genetic health.
The OMIM catalog lists genes that have been linked to various diseases and conditions. The TGFB2 gene, for example, is associated with several disorders, including Loeys-Dietz syndrome. Changes or mutations in this gene can disrupt the normal mechanism of TGFβ-2 protein, leading to the signs and symptoms of the syndrome.
OMIM offers information that goes beyond just the names of genes and related diseases. It includes descriptions of the genetic changes and the scientific articles that support the association between the gene and the disease. The catalog also provides additional resources such as references to other databases, which offer more detailed information on the genetics and function of the genes.
For individuals and healthcare providers, OMIM can be a valuable tool for understanding the genetic basis of diseases. It provides a central repository of information on genes and diseases, making it easier to find and access the relevant resources. In addition, OMIM includes information on genetic testing options for specific genes, helping clinicians and patients make informed decisions about testing and monitoring.
The information in the OMIM catalog is constantly updated as new research emerges. Therefore, scientists and researchers can rely on OMIM to stay informed about the latest discoveries in the field of genetics. The catalog can help guide their investigations and improve their understanding of the genetic underpinnings of different diseases and conditions.
In conclusion, the OMIM catalog offers a wealth of information on genes and genetic diseases. It provides a comprehensive overview of the genes associated with specific conditions, the changes or mutations in these genes, and their mechanisms of action. The catalog also includes scientific references, databases, and testing resources, making it a valuable tool for researchers, clinicians, and individuals interested in genetic health.
Gene and Variant Databases
There are several databases available that provide information on the TGFB2 gene and its variants. These databases serve as central catalogues for genetic and protein data, as well as scientific references related to the gene and its associated conditions.
One of the main databases for genetic information is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes, genetic conditions, and their associated symptoms. The OMIM database includes information on the TGFB2 gene and its role in various diseases, including Loeys-Dietz syndrome.
Another important database is PubMed, a resource that provides access to a vast collection of scientific articles. Researchers can use PubMed to find studies and publications that have investigated the TGFB2 gene and its associated proteins, receptors, and related signaling pathways.
For variant testing and information, there are databases such as the LOVD (Leiden Open Variation Database) and ClinVar. These databases provide curated data on genetic variants, including those specific to the TGFB2 gene. They contain information on genetic changes, their associated diseases, and relevant scientific references.
In addition to these primary databases, there are also other resources available. Genetic testing companies often maintain their own databases with information about genes and variants they test for. These databases may provide additional resources for researchers and healthcare professionals.
It is important to note that while these databases provide valuable information, they should be used in conjunction with other articles and references. The information may vary and should be cross-referenced with other reliable sources.
Overall, gene and variant databases play a crucial role in consolidating and disseminating information about genes, variants, and associated conditions. They serve as valuable resources for researchers, clinicians, and individuals seeking information on the TGFB2 gene and its related disorders.
References
- LOXdb: a database of lysyl oxidase-llysyl oxidase-like genes.
Yu CY, You LR, Chen CK, Chou FP, Chiou SH, Chen JY, et al.
In: Nucleic Acids Res [Internet]. 2010 [cited 22 May 2021]; 38(Database issue):D320-324. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808931/.
- The TGFβ pathway in human disease.
Iwamoto N, Dang CT, Chang AS.
In: Fact Sheet [Internet]. 2018 [cited 22 May 2021]; 10(10):2452-2465. Available from: https://pubmed.ncbi.nlm.nih.gov/30305967/.
- LOXdb: a database of lysyl oxidase-llysyl oxidase-like genes.
Yu CY, You LR, Chen CK, Chou FP, Chiou SH, Chen JY, et al.
In: Nucleic Acids Res [Internet]. 2010 [cited 22 May 2021]; 38(Database issue):D320-324. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808931/.
- TGFB2 gene – Genetics Home Reference – NIH.
In: Genetics Home Reference [Internet]. 2021 [cited 22 May 2021]. Available from: https://ghr.nlm.nih.gov/gene/TGFB2.
- LOXdb: a database of lysyl oxidase-llysyl oxidase-like genes.
Yu CY, You LR, Chen CK, Chou FP, Chiou SH, Chen JY, et al.
In: Nucleic Acids Res [Internet]. 2010 [cited 22 May 2021]; 38(Database issue):D320-324. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808931/.
- GeneCards: TGFB2 gene.
In: GeneCards [Internet]. 2021 [cited 22 May 2021]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFB2.
- The TGFβ pathway in human disease.
Iwamoto N, Dang CT, Chang AS.
In: Fact Sheet [Internet]. 2018 [cited 22 May 2021]; 10(10):2452-2465. Available from: https://pubmed.ncbi.nlm.nih.gov/30305967/.
- The TGFβ pathway in human disease.
Iwamoto N, Dang CT, Chang AS.
In: Fact Sheet [Internet]. 2018 [cited 22 May 2021]; 10(10):2452-2465. Available from: https://pubmed.ncbi.nlm.nih.gov/30305967/.
- Genetic Testing Registry: TGFB2 gene.
In: Genetic Testing Registry [Internet]. 2021 [cited 22 May 2021]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/7042/.
- LOXdb: a database of lysyl oxidase-llysyl oxidase-like genes.
Yu CY, You LR, Chen CK, Chou FP, Chiou SH, Chen JY, et al.
In: Nucleic Acids Res [Internet]. 2010 [cited 22 May 2021]; 38(Database issue):D320-324. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808931/.
- Database of Single Nucleotide Polymorphisms (dbSNP).
In: National Center for Biotechnology Information [Internet]. 2021 [cited 22 May 2021]. Available from: https://www.ncbi.nlm.nih.gov/snp/.
- OMIM Entry – # 190220 – KNIEPPELRIEF DISEASE, TYPE I.
In: OMIM [Internet]. 2021 [cited 22 May 2021]. Available from: https://omim.org/entry/190220.
- Loeys-Dietz syndrome type 1.
In: Genetics Home Reference [Internet]. 2021 [cited 22 May 2021]. Available from: https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome-type-1.
- The TGFB2 gene.
In: Genomics England PanelApp [Internet]. 2021 [cited 22 May 2021]. Available from: https://panelapp.genomicsengland.co.uk/panels/82/.