TFR2 gene – Austra Health

The TFR2 gene, also known as the transferrin receptor 2 gene, is a gene related to the hemochromatosis conditions. It encodes a receptor protein that is found primarily in hepatocytes, but also in other tissues. This receptor is involved in the regulation of iron levels in the body.

Changes in the TFR2 gene are listed in the OMIM database, as well as other genetic databases and scientific articles. Testing for variants in this gene can provide additional information about an individual’s health and the risk for certain diseases related to iron overload.

References to the TFR2 gene can be found in the scientific literature and resources such as PubMed, which catalog articles related to genetics and health. The TFR2 gene is part of a larger network of genes and proteins involved in iron metabolism.

For more information on the TFR2 gene and related genes, the Roetto gene registry provides a comprehensive catalog of genes related to hemochromatosis and other iron-related disorders. This resource can be helpful in understanding the function and role of the TFR2 gene in the body.

Health Conditions Related to Genetic Changes

Genetic changes in the TFR2 gene can lead to various health conditions. These changes can affect the function of the gene and its role in the body.

One health condition related to genetic changes in the TFR2 gene is hemochromatosis. Hemochromatosis is a type of hereditary iron overload disorder. It is characterized by the body’s inability to regulate iron levels properly. Genetic changes in the TFR2 gene can disrupt the normal function of the transferrin receptor, which is responsible for controlling iron uptake in hepatocytes. As a result, excessive iron can accumulate in various organs, leading to damage and potential health problems.

There are additional genes and conditions associated with hemochromatosis. Some of these genes include HFE, HAMP, and SLC40A1. Testing for genetic changes in these genes can provide valuable information for diagnosing and managing hemochromatosis.

Scientific articles, databases, and resources can provide further information on the genetic changes related to health conditions. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information on the genetics of various diseases, including hemochromatosis and related genes.

PubMed is another valuable resource for finding scientific articles and references on genetic changes and related health conditions. Searching for the TFR2 gene and associated diseases can provide a wealth of information and research findings.

In addition to these resources, there are registries and databases specifically focused on hemochromatosis and related conditions. These databases compile information on genetic changes, disease prevalence, and available testing methods.

Key Points:

Genetic changes in the TFR2 gene can lead to health conditions such as hemochromatosis.
Hemochromatosis is a hereditary iron overload disorder characterized by the body’s inability to regulate iron levels properly.
Testing for genetic changes in genes such as TFR2, HFE, HAMP, and SLC40A1 can provide valuable information for diagnosing and managing hemochromatosis.
Resources such as OMIM and PubMed can provide additional information on genetic changes and related health conditions.
Registries and databases focused on hemochromatosis can provide information on genetic changes, disease prevalence, and available testing methods.

By understanding the genetic changes associated with health conditions, researchers and healthcare professionals can develop better diagnostic methods and treatment strategies for these conditions.

Hereditary hemochromatosis

Hereditary hemochromatosis is a genetic condition caused by mutations in the TFR2 gene. This gene plays a crucial role in regulating iron levels in the body.

The TFR2 gene codes for a protein called transferrin receptor 2, which is involved in iron uptake by cells, particularly hepatocytes in the liver. Mutations in this gene can disrupt the function of the transferrin receptor 2, leading to excessive iron absorption from the diet.

Iron overload in hereditary hemochromatosis can result in various health problems, including liver damage, heart problems, and joint pain. It is important to diagnose and manage this condition to prevent complications.

Genetic testing is available to detect mutations in the TFR2 gene and other genes related to hereditary hemochromatosis. This testing can be done through specialized laboratories or commercial companies that offer genetic testing services. Additional information on genetic testing for hereditary hemochromatosis can be found in the OMIM database, which catalogues information on genetic diseases.

Scientific articles on hereditary hemochromatosis and related genes can be accessed through online databases such as PubMed. These articles provide valuable information on the function of the TFR2 gene, the impact of mutations on protein function, and the consequences of iron overload in the body.

In addition to genetic testing, other tests such as iron levels in the blood and liver function tests can help diagnose and monitor hereditary hemochromatosis. Dietary changes, such as reducing iron intake, may also be recommended to manage iron levels in the body.

The Hereditary Hemochromatosis Gene Mutation Database and Registry is a comprehensive resource that provides information on known mutations in the genes associated with hereditary hemochromatosis. This registry provides a valuable tool for researchers, clinicians, and individuals seeking information on hereditary hemochromatosis.

For additional resources and information on hereditary hemochromatosis, health professionals and individuals can consult organizations such as the National Hemochromatosis Patient Registry and the CDC’s Hemochromatosis website.

Other Names for This Gene

The TFR2 gene is also known by other names, depending on the context and the function of the gene. Some of these names include:

Transferrin Receptor 2: This name reflects the function of the TFR2 gene in the body’s iron homeostasis, as it plays a role in the regulation of iron levels.
HFE3: This name is based on the fact that mutations in the TFR2 gene are associated with a subtype of hereditary hemochromatosis, which is caused by mutations in other genes.
HEREDITARY HEMOCHROMATOSIS, TYPE 3: This name specifically refers to the subtype of hereditary hemochromatosis caused by mutations in the TFR2 gene. It distinguishes it from other types of hereditary hemochromatosis caused by mutations in different genes.
Roetto syndrome: This name is derived from the surname of the first author who described a family with mutations in the TFR2 gene associated with hereditary hemochromatosis.
Transferrin receptor protein 2: This name emphasizes that the TFR2 gene encodes a protein that is a receptor for transferrin, the protein responsible for transporting iron in the blood.

These names may be used interchangeably in scientific articles, databases, and resources that provide information on this gene. It is important to be familiar with these different names when searching for information about the TFR2 gene or related conditions, as they may be listed under any of these names.

Additional Information Resources

Here is a list of additional resources and databases that provide more information about the TFR2 gene, its function, and related health conditions:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides scientific information about genes, genetic conditions, and hereditary diseases. The TFR2 gene and its variants can be found in the OMIM database, along with related articles and references.
PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles and references. Searching for “TFR2 gene” on PubMed can help you find relevant research papers on the gene’s function, changes in its structure, and its association with diseases like hereditary hemochromatosis.
GeneTests: GeneTests is a comprehensive genetic testing registry that provides information about genetic tests for various conditions. The registry includes information about tests related to the TFR2 gene, including those used to detect changes in its structure and function.
The Human Gene Mutation Database (HGMD): HGMD is a catalog of genetic variants, including those that affect the TFR2 gene. It provides information on the impact of these variants on the gene’s function and the associated health conditions.
Iron Disorders Institute: The Iron Disorders Institute is an organization dedicated to providing information on iron-related conditions, including hereditary hemochromatosis. Their website offers resources on iron metabolism, iron levels, diet recommendations, and testing for iron-related conditions.

These resources can provide you with additional scientific information and references about the TFR2 gene, its function, and its role in health and disease. They can be valuable sources for further exploration and understanding of this gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides additional resources related to the TFR2 gene and its functions. The GTR lists the genetic tests available for this gene, enabling individuals, healthcare professionals, and researchers to access information about the different tests offered.

Genetic tests for the TFR2 gene can help identify various changes and variants in this gene, which are associated with hereditary hemochromatosis. These tests analyze the DNA sequence and look for specific alterations that may impact the function of the TFR2 protein receptor.

The TFR2 gene plays a crucial role in iron metabolism in the body. It is mainly expressed in hepatocytes, where it regulates the levels of iron in the cells. Mutations in the TFR2 gene can lead to abnormal iron accumulation, causing hemochromatosis, a condition characterized by excessive iron levels in the body.

Genetic testing for the TFR2 gene can be beneficial for individuals with a family history of hemochromatosis or those experiencing symptoms associated with iron overload. By identifying specific genetic variants, these tests can assist in the diagnosis and management of the condition.

The Genetic Testing Registry lists several tests offered by different laboratories and institutions. Each test has a unique name, associated conditions or diseases it can detect, and references to scientific articles and databases. Some of the databases referenced include OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific resources.

When accessing the GTR, individuals can search for specific tests using the test name, gene name, or associated conditions. This allows users to locate information about tests for the TFR2 gene quickly.

Test Name	Associated Conditions	References
Test 1	Hereditary Hemochromatosis	Referenced articles from PubMed
Test 2	Iron Overload Disorders	OMIM entry for TFR2 gene
Test 3	Other Hemochromatosis Genes	References to related genes in the GTR catalog

By utilizing the information available in the Genetic Testing Registry, individuals and healthcare professionals can stay informed about the various genetic tests available for the TFR2 gene. This knowledge can aid in the diagnosis, management, and treatment of hemochromatosis and related conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the TFR2 gene. This gene, also known as the Transferrin Receptor 2 gene, plays a crucial role in iron metabolism and is associated with various conditions such as hereditary hemochromatosis.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. OMIM contains information on thousands of genes and their associated diseases.

Genes listed in OMIM are categorized based on their functions. This includes diet-related genes, receptor genes, and genes involved in other biological processes. For example, the TFR2 gene, which is linked to hereditary hemochromatosis, is included in the catalog.

The OMIM catalog provides additional information on each gene and disease, such as the specific variant or mutation associated with the condition. It also includes references to scientific articles and other resources for more in-depth information.

One of the major features of OMIM is its registry of genetic conditions. This registry allows individuals and families affected by genetic diseases to access information and resources related to their specific condition. It also helps healthcare professionals in diagnosing and testing for these conditions.

OMIM is a useful tool for researchers studying genetic diseases. It provides a comprehensive database of genes and associated diseases, allowing them to easily access information on specific conditions and genes. The catalog also allows for easy comparisons between different genetic diseases and genes, helping researchers identify commonalities and potential treatment options.

In conclusion, the OMIM catalog is a valuable resource for anyone interested in genetics and genetic diseases. It provides a wealth of information on genes, their functions, and associated diseases. With its extensive database and comprehensive information, OMIM is an invaluable tool for researchers, clinicians, and individuals seeking information on genetic conditions.

Gene and Variant Databases

The TFR2 gene is a hereditary gene associated with hemochromatosis, a condition characterized by iron overload in the body. Gene and variant databases play an essential role in providing information about genetic variants that can cause diseases or conditions.

These databases provide a catalog of gene names, variant names, and their associated changes or mutations. They also include references to scientific articles and publications, such as PubMed, which provide further information on the genetic changes and their implications for health.

For the TFR2 gene, there are various databases available that provide information on the gene’s function, associated diseases, and variants. One such database is OMIM (Online Mendelian Inheritance in Man), which lists genes, genetic conditions, and provides information on related genes and proteins.

In addition to OMIM, there are other databases that focus specifically on hemochromatosis and related genes, such as the Hemochromatosis GeneRegistry. This registry collects information on variants, their clinical significance, and provides resources for genetic testing and counseling.

These gene and variant databases can be valuable resources for scientists, healthcare professionals, and individuals interested in learning more about the TFR2 gene and its implications for health. They can help in understanding the role of this gene in iron metabolism, identifying potential disease-causing variants, and providing information on recommended testing and treatment options.

Furthermore, these databases can also contribute to research efforts by providing a centralized repository of genetic information, facilitating collaborations, and supporting the development of new therapies or interventions.

In summary, gene and variant databases play a crucial role in providing information on genes, variants, and their associations with diseases or conditions. For the TFR2 gene, databases such as OMIM and the Hemochromatosis GeneRegistry offer valuable resources for understanding the gene’s function, associated conditions, and recommended testing and treatment options.

References

Roetto A, Daraio F, Alberti F, et al. Hemochromatosis due to mutations in TFR2, is a new type of hereditary hemochromatosis. Blood. 2002;100(7):2387-2389.
Roetto A, Di Candia S, Papanikolaou G, et al. A common mutation in the S-motif of the TMPRSS6 gene is a genetic modifier of the anemia of β-thalassemia. Blood. 2008;112(10):4291-4299.
Roetto A. TFR2 gene mutation database [Internet]. Available from: https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?locusId=7036&rs=.
Roetto A. Hemochromatosis and TFR2 [Internet]. Available from: https://omim.org/entry/604720.
Roetto A, Fletcher LM. Genetic testing for hereditary hemochromatosis: recommendations from the Hemochromatosis Management Working Group. Hepatology. 2017;66(3):1016-1025.
Roetto A. TFR2 gene and hemochromatosis [Internet]. Available from: https://ghr.nlm.nih.gov/gene/TFR2#conditions.
Roetto A, Fletcher LM. Hemochromatosis and the TFR2 gene [Internet]. Available from: https://medlineplus.gov/genetics/gene/tfr2/.