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The PKD2 gene, also known as polycystin-2, is a gene that is primarily expressed in the kidneys. It is listed to be associated with the primary autosomal dominant polycystic kidney disease (ADPKD). This gene is responsible for encoding a protein called polycystin-2, which is involved in the regulation of fluid transport in kidney cells.

Abnormally changes in the PKD2 gene can result in the development of polycystic kidney disease, a condition characterized by the growth of fluid-filled cysts in the kidneys. This disease can lead to various health complications, including renal failure.

Information on the PKD2 gene and related diseases can be found in various resources, such as scientific articles available on PubMed and additional databases, like OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide valuable information on the genetic changes associated with the PKD2 gene and the testing procedures available for detecting variants in this gene.

It is important to note that the PKD2 gene is closely related to another gene called polycystin-1, and changes in both genes can contribute to the development of primary polycystic kidney disease. Testing for changes in these genes is often performed in individuals with a family history of polycystic kidney disease or in those who exhibit symptoms related to the disease.

The PKD2 gene has also been associated with other conditions and diseases, besides polycystic kidney disease. These include various renal and genetic disorders. To access further information on the PKD2 gene and related conditions, individuals can refer to specialized genetic catalogs and registries.

Genetic changes in the PKD2 gene can lead to various health conditions. These changes can affect the function of the kidneys and result in the development of polycystic kidney disease (PKD). Polycystic kidney disease is a common genetic disorder characterized by the growth of fluid-filled cysts in the kidneys.

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The PKD2 gene provides instructions for making a protein called polycystin-2. This protein is one of two proteins, along with polycystin-1, that are involved in maintaining the normal structure and function of the kidneys.

Genetic changes in the PKD2 gene can disrupt the production or function of polycystin-2, leading to the abnormal proliferation of kidney cells and the formation of cysts. These cysts can gradually enlarge and lead to a decline in kidney function over time.

To identify genetic changes in the PKD2 gene, various tests and resources are available. Scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide information on the genetic changes, diseases, and health conditions associated with the PKD2 gene.

Additional testing, such as genetic testing, may be necessary to confirm the presence of genetic changes in the PKD2 gene. Genetic testing can help in diagnosing polycystic kidney disease and identifying other related health conditions.

The PKD2 gene is not the only gene associated with polycystic kidney disease. There are other genes, including the PKD1 gene, that can also have genetic changes leading to the development of this condition. The Catalog of Human Genes and Genetic Disorders (Clinical and Research) provides a comprehensive list of genes related to polycystic kidney disease.

In addition to the listed resources and databases, there are scientific articles available on PubMed that provide further information on the genetic changes, health conditions, and testing related to the PKD2 gene.

Overall, genetic changes in the PKD2 gene can have significant implications for kidney health. Understanding the role of these genetic changes and the associated health conditions is essential for early detection, diagnosis, and management of polycystic kidney disease and other related genetic conditions.

See also  Townes-Brocks Syndrome

Polycystic kidney disease

Polycystic kidney disease (PKD) is a genetic disorder that affects the kidneys. It is characterized by the growth of numerous cysts in the kidneys, which leads to the progressive loss of renal function.

The primary gene associated with PKD is the PKD2 gene, also known as polycystin-2. Mutations in this gene lead to the abnormal proliferation of renal epithelial cells and the formation of cysts in the kidneys. The PKD2 gene is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene to develop the disease.

There are several available tests for genetic testing of the PKD2 gene. Some of the commonly used tests include DNA sequencing, targeted variant analysis, and gene deletion/duplication analysis. These tests can provide information about the specific genetic changes that are present in a person’s PKD2 gene.

Information about PKD and the PKD2 gene can be found in various scientific articles and databases. PubMed is a widely used database that provides access to a large collection of scientific articles related to PKD and other diseases. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that catalogs genetic conditions and the associated genes.

In addition to these databases, there are also other resources available for information on PKD and the PKD2 gene. The PKD Foundation is a nonprofit organization that provides support and resources for individuals and families affected by PKD. The PKD Registry is a comprehensive database that collects and analyzes data on individuals with PKD to advance research and improve patient care.

Overall, understanding the genetic changes in the PKD2 gene and their impact on the kidneys is crucial for the diagnosis and management of polycystic kidney disease. Genetic testing can provide important information for healthcare providers and help guide treatment decisions for affected individuals.

Other Names for This Gene

The PKD2 gene is also known by other names:

  • Polycystin-2
  • PC2
  • Polycystin-2, transient receptor potential cation channel
  • PKD1L2
  • Polycystin-2-like 1

These are alternative names for the same gene, which is associated with polycystic kidney disease (PKD), a genetic disorder characterized by the growth of multiple cysts in the kidneys. Changes in the PKD2 gene can lead to the development of this condition.

Additional information about the PKD2 gene can be found in various scientific databases and resources, such as PubMed, OMIM, and the Genetic Testing Registry. These sources provide references to articles, studies, and other resources discussing the PKD2 gene and its role in polycystic kidney disease.

Genetic testing and screening are available to detect changes in the PKD2 gene and diagnose related conditions. These tests can help in the identification of individuals at risk for polycystic kidney disease and provide information on the management and treatment options available. The primary test used is sequencing of the PKD1 and PKD2 genes.

Polycystin-2, the protein encoded by the PKD2 gene, is involved in the regulation of cell proliferation and the function of cells in the kidneys. Abnormally functioning polycystin-2 can disrupt cellular processes, leading to the formation of cysts and the progression of polycystic kidney disease.

For more information about the PKD2 gene and related diseases, you can refer to the articles and references listed on PubMed and other scientific publications.

Additional Information Resources

Here is a list of additional resources that provide health information, scientific articles, and genetic testing information related to the PKD2 gene:

  • OMIM – OMIM (Online Mendelian Inheritance in Man) provides a catalog of genes and genetic diseases, including PKD2. You can find information about the gene, its variants, and associated conditions on this platform.
  • PubMed – PubMed is a vast database of scientific articles. You can search for research papers on PKD2 and its role in polycystic kidney disease and other related conditions.
  • NCBI – The National Center for Biotechnology Information (NCBI) provides various databases and tools for genetic research. You can find information on genetic variants, changes in the PKD2 gene, and more on this platform.
  • GeneCards – GeneCards is a comprehensive database that provides information on genes, their functions, and associated diseases. You can find detailed information about the PKD2 gene and its role in kidney diseases on this platform.
  • PubMed – PubMed also contains scientific articles specifically focused on polycystic kidney disease. You can explore research about the disease, its causes, symptoms, treatment options, and more on this platform.
See also  POMT1 gene

These resources will provide you with additional information and references regarding the PKD2 gene, its variants, and its role in polycystic kidney disease and other related conditions. It’s important to stay informed about the latest research and advancements in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of resources related to genetic testing for the PKD2 gene and its associations with various health conditions.

The GTR lists various genetic tests available for the PKD2 gene, which is associated with renal polycystic disease. These tests can help identify changes or variants in the PKD2 gene that may be responsible for the abnormal proliferation of cysts in the kidney.

Primary information on genetic tests for the PKD2 gene can be found in the GTR. The GTR catalog provides details such as test names, test availability, and information on the conditions that can be tested for using these genetic tests.

Additional information on the PKD2 gene and related conditions can also be found in scientific articles available on databases like PubMed and OMIM. These articles provide references and further information on the genetic changes in the PKD2 gene and its association with renal polycystic disease.

Testing for the PKD2 gene is commonly performed to identify variants in this dominant gene that can lead to renal polycystic disease. Other genes, such as polycystin-1 and polycystin-2, may also be tested for in cases of renal polycystic disease.

The GTR serves as a valuable resource for healthcare professionals and researchers interested in genetic testing for renal polycystic disease. It provides comprehensive information on the available tests, related genes, and associated conditions.

Resources Related Information
Genetic Testing Registry (GTR) Primary information on genetic tests for the PKD2 gene
PubMed Scientific articles on the genetic changes in the PKD2 gene and its association with renal polycystic disease
OMIM References and additional information on the PKD2 gene

Through these resources, healthcare professionals and researchers can gain a deeper understanding of the genetic basis of renal polycystic disease and explore potential avenues for diagnosis and treatment.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the PKD2 gene. This gene is one of the genes associated with polycystic kidney disease, a condition characterized by the formation of multiple cysts in the kidneys. PubMed lists numerous articles related to this gene and its role in various conditions.

For the PKD2 gene, PubMed provides information on genetic changes, variants, and their impact on health. Additionally, scientific articles on PubMed discuss the role of the PKD2 gene in the formation of cysts in the kidneys, as well as its interaction with other genes such as polycystin-1. These articles explore the molecular changes and cellular proliferation associated with the disease.

PubMed also offers references to additional resources, such as the OMIM registry, which catalogues genetic variants and related diseases. Furthermore, PubMed provides information on available genetic testing for the PKD2 gene and other genes involved in the development of polycystic kidney disease.

Scientific articles on PubMed cover a wide range of topics related to the PKD2 gene and its implications in polycystic kidney disease. These articles can aid in understanding the genetic changes and cellular processes associated with the disease, as well as the development of potential diagnostic tests and treatments.

Common Gene Names:

  • PKD2
  • Polycystic kidney disease 2 (autosomal dominant)

Databases and Resources:

  • PubMed
  • OMIM

Related Diseases:

  • Polycystic kidney disease
  • Kidney diseases

Scientific Articles:

  1. Article 1: Title of the article (Epub ahead of print)
  2. Article 2: Title of the article (Epub ahead of print)
  3. Article 3: Title of the article (Epub ahead of print)
  4. Article 4: Title of the article (Epub ahead of print)
  5. Article 5: Title of the article (Epub ahead of print)
See also  Tuberous sclerosis complex

Catalog of Genes and Diseases from OMIM

The PKD2 gene is listed in the OMIM registry. It is a dominant gene related to kidney diseases. Scientific studies have shown that changes in this gene can lead to the development of polycystic kidney disease, a condition characterized by the formation of abnormally large cysts in the kidneys. Polycystin-2, the protein encoded by the PKD2 gene, plays a crucial role in the regulation of cell proliferation and other important cellular processes in the kidneys.

OMIM provides a comprehensive catalog of genes and diseases, and it is a valuable resource for researchers and healthcare professionals. In addition to the PKD2 gene, the catalog includes information about other genes and conditions that are commonly related to polycystic kidney disease. Tests for PKD2 gene variant are available, which can help in the genetic testing and diagnosis of this disease.

For more information on PKD2 and related genes, OMIM provides references to scientific articles available on PubMed. These articles provide additional information on the genetic changes associated with polycystic kidney disease and the role of polycystin-1 and polycystin-2 genes in the development of this disease.

Catalog of Genes and Diseases from OMIM
Gene Disease
PKD1 Polycystic kidney disease
PKD2 Polycystic kidney disease
PKD3 Polycystic kidney disease

It is important to note that OMIM is not the only resource available for information on genes and diseases. There are other databases and registries that provide information on various genetic conditions and their associated genes. Therefore, researchers and healthcare professionals should consult multiple resources to gather comprehensive information about specific genes and diseases.

Gene and Variant Databases

Gene and variant databases are valuable sources of information for researchers and healthcare professionals working with the PKD2 gene. These databases provide articles and references related to the gene and its variant, polycystin-2. They contain information on the genetic changes associated with the disease, as well as additional data on related genes and conditions.

One of the primary gene databases available is the OMIM (Online Mendelian Inheritance in Man) database. OMIM lists the genes associated with polycystic kidney disease and provides references to scientific articles and resources for further reading. PubMed is another important database that houses a vast collection of scientific publications and articles related to the PKD2 gene.

Variant databases, such as the PKD2 Variant Database, store information on different variants of the PKD2 gene. These databases catalog the genetic changes or mutations that cause polycystic kidney disease. Such databases are crucial for genetic testing and understanding the underlying mechanisms of the disease.

Healthcare professionals and researchers can access these databases to retrieve information on the PKD2 gene and its variants. The information can aid in the diagnosis and management of polycystic kidney disease, as well as in the development of potential therapeutic approaches.

In summary, gene and variant databases provide a wealth of information on the PKD2 gene, its variants, and related conditions. Researchers and healthcare professionals can access these databases to gain insights into the genetic changes associated with polycystic kidney disease and discover scientific articles and resources related to the topic.

References

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