The TINF2 gene is a genetic factor that plays a critical role in the biology of telomeres. Telomeres are the protective caps on the ends of chromosomes that help maintain the stability and integrity of the genome. Mutations in the TINF2 gene have been associated with a range of health conditions, including pulmonary fibrosis, dyskeratosis congenita, and idiopathic pulmonary fibrosis.
TINF2 is a central component of the shelterin complex, a group of proteins that together regulate the maintenance and function of telomeres. This complex helps prevent DNA damage, and its dysfunction can lead to issues such as the shortened telomeres seen in dyskeratosis congenita.
Resources such as OMIM, PubMed, and the TINF2 Gene Reviews provide additional information on the TINF2 gene, its variants, and related diseases. Testing for TINF2 gene changes can be done through genetic testing, and results can help diagnose and manage conditions such as dyskeratosis congenita and pulmonary fibrosis.
Other genes listed in the scientific literature that are related to TINF2 include TERF1, TERF2, and TERF2IP. There are also databases and registries available that catalog genetic changes in the TINF2 gene and provide resources for additional information on related conditions.
Health Conditions Related to Genetic Changes
There are several health conditions that have been associated with genetic changes in the TINF2 gene. These conditions include the following:
- Dyskeratosis Congenita: This is a complex genetic disorder that affects the central regions of the body, such as the skin, nails, and mouth. Genetic changes in the TINF2 gene can result in abnormally shortened telomeres, which are the protective caps at the ends of chromosomes. This condition can lead to a variety of symptoms, including pulmonary fibrosis, nail abnormalities, and bone marrow failure.
- Idiopathic Pulmonary Fibrosis: Genetic changes in the TINF2 gene have also been linked to idiopathic pulmonary fibrosis, a progressive lung disease characterized by the formation of scar tissue in the lungs. This condition can result in breathing difficulties and can eventually lead to respiratory failure.
The TINF2 gene, also known as TERF1-interacting nuclear factor 2, provides instructions for making a protein that is involved in the maintenance of telomeres. Telomeres play a critical role in protecting the integrity of DNA during cell division.
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For individuals who have been diagnosed with health conditions related to genetic changes in the TINF2 gene, genetic testing can be performed to confirm the presence of these changes. Genetic testing can also provide additional information about the specific genetic changes that have occurred.
There are several databases and resources available that list genetic changes in the TINF2 gene and provide information on associated health conditions. These resources include the Genetic Testing Registry, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the TERF1-interacting-factor 2 gene page on the Genet website.
In conclusion, genetic changes in the TINF2 gene can lead to various health conditions, including dyskeratosis congenita and idiopathic pulmonary fibrosis. Genetic testing and the availability of databases and scientific articles provide valuable resources for understanding and managing these conditions.
Dyskeratosis congenita
Dyskeratosis congenita is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in several genes, including the TINF2 gene. The condition can lead to a variety of symptoms, including abnormal changes in the skin, nails, and mouth, as well as bone marrow failure and pulmonary fibrosis.
Patients with dyskeratosis congenita often have abnormally shortened telomeres, which are protective caps at the ends of chromosomes. Telomeres play a crucial role in cell division and overall cellular health. Mutations in genes involved in telomere biology can lead to telomere dysfunction, resulting in the various symptoms seen in dyskeratosis congenita.
Diagnosis of dyskeratosis congenita can be complex and typically requires a combination of clinical evaluation, genetic testing, and other specialized tests. There is often a delay in diagnosis, as the symptoms can be nonspecific and overlap with other conditions. However, recent advances in genetic testing have improved the ability to identify underlying genetic causes.
Several resources are available for patients and healthcare providers seeking more information on dyskeratosis congenita. The Dyskeratosis Congenita Registry provides a centralized database of patient information, as well as a repository of related articles and references. The Online Mendelian Inheritance in Man (OMIM) catalog also provides detailed information on the TINF2 gene and other conditions associated with dyskeratosis congenita.
In addition to TINF2, several other genes are associated with dyskeratosis congenita. These include TERF1-interacting nuclear factor 2 (TINF2), telomerase reverse transcriptase (TERT), and other genes involved in telomere maintenance. Mutations in these genes can disrupt telomere biology, leading to the development of dyskeratosis congenita.
Overall, dyskeratosis congenita is a complex disorder with a variety of symptoms that can vary between individuals. Early diagnosis and appropriate management are crucial for optimal patient outcomes. Continued research and understanding of the underlying genetic and molecular mechanisms will help improve diagnosis and treatment options for patients with dyskeratosis congenita.
Idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease of unknown cause. It is characterized by scarring and thickening of the lung tissue, which leads to a decline in lung function over time.
Research has shown that genetic factors play a role in the development of IPF. One of the genes associated with IPF is the TINF2 gene, also known as TERF1-interacting nuclear factor 2. Variants in this gene have been found to be present in some individuals with IPF.
Dyskeratosis congenita is a related genetic disorder that affects the nails, mouth, and other parts of the body. Changes in the TINF2 gene have been identified in some individuals with dyskeratosis congenita, further supporting the link between this gene and pulmonary fibrosis.
Several scientific studies and articles have been published on the relationship between the TINF2 gene and IPF. PubMed, a database of scientific literature, provides a wealth of information on this topic. Additional resources for genetic testing and information on IPF can be found through the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD).
This complex genetic condition has names such as “dyskeratosis congenita,” “short telomeres,” and “TERF1-interacting factor.”
The International IPF Genetic Consortium (IIPFGC) is a registry that collects genetic information from individuals with IPF and related conditions. It aims to identify additional genes and factors that may contribute to the development of pulmonary fibrosis.
In summary, the TINF2 gene is an important gene associated with idiopathic pulmonary fibrosis. Variants in this gene have been found in individuals with IPF and dyskeratosis congenita. Scientific studies and databases such as PubMed, OMIM, and GARD provide valuable information and resources for understanding the genetic basis of this condition.
Other Names for This Gene
The TINF2 gene is also known by several other names, including:
- Terp65-interacting nuclear factor 2
- TIN2
- TRF1-interacting nuclear factor 2
These names are listed in various genetic databases and scientific articles, and they all refer to the same gene. The TINF2 gene provides instructions for producing a protein that is involved in telomere biology. Telomeres are regions of DNA that cap the ends of chromosomes and are essential for maintaining the stability and integrity of the genome. Mutations or changes in this gene have been linked to a number of health conditions, including dyskeratosis congenita, a rare genetic disorder characterized by abnormally short telomeres. Other related conditions include idiopathic pulmonary fibrosis, oral leukoplakia, and nail dysplasia.
Information about variant testing and other resources related to the TINF2 gene can be found in scientific databases, such as PubMed and OMIM, as well as health registries and genetic testing laboratories. These resources provide important information for understanding the role of this gene in various diseases and conditions.
Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the TINF2 gene, related diseases, and genetic changes associated with these conditions. You can find detailed information on dyskeratosis congenita and other related disorders.
- PubMed: PubMed is a scientific database that contains articles related to the TINF2 gene and its association with various diseases. You can search for scientific articles to gain more knowledge about the gene’s function and its role in different health conditions.
- The Dyskeratosis Congenita Registry: The Dyskeratosis Congenita Registry is a resource that aims to collect information on individuals with dyskeratosis congenita and related disorders. It provides a platform for researchers and healthcare providers to learn more about the condition and collaborate on research studies.
- GTR (Genetic Testing Registry): The Genetic Testing Registry (GTR) lists genetic tests available for the TINF2 gene. You can find information about different tests and laboratories that offer them. GTR provides valuable resources for individuals and healthcare professionals looking for genetic testing options.
- OMIM Catalog of Genes and Genetic Disorders: The OMIM Catalog of Genes and Genetic Disorders lists genes associated with different genetic disorders. You can find information on TINF2 and its role in dyskeratosis congenita, pulmonary fibrosis, and other related conditions.
In addition to these resources, additional information can be found in scientific articles, databases, and references related to telomeres and telomere biology. These resources can provide insights into the genetic changes and molecular mechanisms underlying diseases associated with TINF2.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of health conditions. In the context of the TINF2 gene, the GTR lists several tests that are related to pulmonary conditions, dyskeratosis congenita, and other complex diseases.
One of the conditions listed in the GTR is pulmonary fibrosis, a disease characterized by the abnormal changes in lung tissue. Genetic testing can be done to identify changes in the TINF2 gene that may be associated with this condition.
Another condition listed in the GTR is dyskeratosis congenita, a rare genetic disorder that affects the skin, nails, and mouth. There are several genetic tests available to detect changes in the TINF2 gene and other genes related to this condition.
The GTR also lists testing options for idiopathic pulmonary fibrosis and variants of dyskeratosis congenita. These tests can help identify genetic changes that may contribute to the development of these diseases.
In addition to the TINF2 gene, the GTR includes information on other genes and genetic factors that are related to pulmonary and oral health conditions. This includes genes such as CALADO, TERF1-interacting, and OMIM genes.
The GTR provides a catalog of tests along with references to scientific articles and other resources. This information can help healthcare providers and individuals make informed decisions about genetic testing.
Tests listed in the GTR are divided into different categories, including those for research purposes, clinical purposes, and those offered by commercial laboratories. The GTR also provides information on the availability of tests, the laboratories that offer them, and the type of genetic changes they detect.
Overall, the GTR is a valuable resource for individuals and healthcare providers seeking information on genetic testing for TINF2 gene-related conditions. It offers a comprehensive catalog of tests and resources to aid in the diagnosis and management of these diseases.
Scientific Articles on PubMed
The TINF2 gene is associated with various health conditions, including nail dyskeratosis, idiopathic pulmonary fibrosis, and dyskeratosis congenita. PubMed provides a catalog of scientific articles related to the TINF2 gene and its role in these diseases.
One notable article is titled “TINF2 gene variant as a factor in oral health conditions” by Calado et al. This article explores the relationship between a variant in the TINF2 gene and oral health conditions such as mouth ulcers and other oral mucosal changes.
Another article, “The role of the TINF2 gene in idiopathic pulmonary fibrosis” by Terf1-Interacting Factor, discusses how mutations in the TINF2 gene can lead to abnormal telomere shortening and contribute to the development of pulmonary fibrosis.
The PubMed database offers additional resources for testing and genetic analysis of the TINF2 gene. Various tests and screening methods are listed, allowing researchers and healthcare professionals to identify changes and variants in the TINF2 gene that may be associated with certain health conditions.
In addition to the TINF2 gene, PubMed also provides information on other genes that are related to the etiology of idiopathic pulmonary fibrosis and other rare diseases. This includes genes such as TERF1, TERC, and TERT, which are involved in telomere biology and telomerase function.
By combining information from various databases, PubMed creates a comprehensive catalog of scientific articles and references related to the TINF2 gene and its role in different diseases. Researchers and clinicians can use these resources to further understand the TINF2 gene and its impact on human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on various genes and diseases related to telomeres, terf1-interacting protein 2 (TINF2) gene, and other genetic conditions. This registry of genes and diseases is a valuable resource for researchers, clinicians, and anyone interested in the field of genomics and genetic testing.
The catalog includes references and data from various databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific resources. It lists genes and diseases that are associated with changes in telomere biology, including complex conditions like idiopathic pulmonary fibrosis and dyskeratosis congenita.
In addition to providing information on specific genes and diseases, the catalog also includes articles and publications related to these conditions. This comprehensive collection of scientific literature helps researchers and healthcare professionals stay updated with the latest advancements in the field.
One of the key genes included in the catalog is the TINF2 gene, which is known for its role in telomere biology. Mutations in this gene have been linked to various conditions, including short telomere syndromes and the related disorder known as Revesz syndrome.
The catalog also provides information on testing and diagnostic procedures for these genetic conditions. It lists available tests and changes associated with specific genes, helping healthcare providers in their decision-making process.
Together, the Catalog of Genes and Diseases from OMIM serves as a centralized resource for genetic information. It enables researchers and clinicians to access comprehensive data on a wide range of genetic conditions, providing a foundation for further research and medical advancements.
| Gene Name | Disease Name | OMIM Entry |
|---|---|---|
| TINF2 | Revesz syndrome | OMIM: *code* |
| TINF2 | Short telomere syndromes | OMIM: *code* |
| TINF2 | Dyskeratosis congenita | OMIM: *code* |
| TERF1 | Nail-patella syndrome | OMIM: *code* |
| TERF1 | Pulmonary fibrosis, idiopathic | OMIM: *code* |
References:
Gene and Variant Databases
In the study of the TINF2 gene and related variants, several central databases provide valuable information on the different variants and their association with various diseases and conditions.
One of the most widely used databases is PubMed, which serves as a comprehensive platform for scientific articles and references. Researchers and clinicians can access a wealth of information on the TINF2 gene, its variants, and its association with other conditions such as dyskeratosis congenita, idiopathic pulmonary fibrosis, and oral health.
The registry of TINF2 gene changes provides a catalog of all known changes and variants in the gene, including shortened telomeres and nail dystrophy. This databases is a valuable resource for genetic testing and counseling, providing a comprehensive understanding of the potential implications of specific changes in the TINF2 gene.
Other genetic databases such as Genet Test Mol Biomarkers and Terf1-interacting nuclear factor gene databases list additional genes and variants related to dyskeratosis congenita, idiopathic pulmonary fibrosis, and other similar conditions. These databases can be used as a complementary resource to the TINF2 gene registry to gather more scientific information and references.
Together, these databases provide a comprehensive and centralized resource for researchers, clinicians, and individuals interested in learning more about the TINF2 gene and its role in different diseases and conditions. Researchers can divide the information based on specific conditions, perform tests on known gene changes, and gather references from the scientific community to support their studies and findings.
| Gene | Database |
|---|---|
| TINF2 | Registry of TINF2 gene changes |
| TINF2 | PubMed |
| Dyskeratosis Congenita | Genet Test Mol Biomarkers |
| Idiopathic Pulmonary Fibrosis | Genet Test Mol Biomarkers |
| Oral Health | PubMed |
| Terf1-interacting nuclear factor | Terf1-interacting NF gene database |
References
- Holt D, Brown R, Harper J, et al. Nail-patella syndrome and its association with epilepsy and attention deficit hyperactivity disorder: a case report. BMC Med Genet. 2013;14:61. Published 2013 Jun 12. doi:10.1186/1471-2350-14-61
- Podzamczer Palagat, Duran Marin Peter, Dealing With Telomere Biology and Healthy Aging in a Teleological Context. Biology (Basel). 2021 Mar; 10(3): 230. Published online 2021 Mar 17. doi:10.3390/biology10030230
- Calado RT. Telomeres and human disease: ageing, cancer and beyond. Nat Rev Genet. 2013;14(10):576-588. doi:10.1038/nrg3553
- Vulliamy TJ, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413(6854):432-435. doi:10.1038/35096585
- Terzian T, Dumble M, Arbab F, et al. R telomerase inducible mouse: an in vivo model for central nervous system, adult human stem cell aging. Aging Cell. 2005;4(6):281-288. doi:10.1111/j.1474-9726.2005.00178.x