The AQP2 gene, also known as aquaporin-2, is a gene responsible for encoding the protein aquaporin-2. Aquaporin-2 is primarily found in the kidneys, specifically in the collecting ducts, where it plays a crucial role in the reabsorption of water. This gene is listed in various genetic databases, such as OMIM and the Human Gene Mutation Database (HGMD), which catalog genetic changes and related information for a wide range of diseases and conditions.
Nephrogenic diabetes insipidus (NDI) is one of the conditions associated with mutations in the AQP2 gene. In NDI, the aquaporin-2 channels are either absent or misfolded, resulting in a decrease in water reabsorption in the collecting ducts. As a result, affected individuals have excessive urine production and increased water intake.
Genetic testing for mutations in the AQP2 gene can be performed to confirm a diagnosis of NDI or other related conditions. This testing can be done through laboratories listed in resources like the Genetic Testing Registry (GTR) or by utilizing scientific databases such as PubMed for additional information and references.
Health Conditions Related to Genetic Changes
Genetic changes in the AQP2 gene can lead to various health conditions. AQP2, also known as aquaporin-2, is a gene that codes for a protein involved in water reabsorption in the kidneys. When there are genetic changes in this gene, it can affect the functioning of aquaporin-2 channels in the cells of the collecting ducts in the kidneys.
One of the main health conditions associated with genetic changes in the AQP2 gene is nephrogenic diabetes insipidus (NDI). NDI is a condition characterized by excessive thirst and urine output due to the kidneys’ inability to reabsorb water properly. This can result in dehydration and electrolyte imbalances.
Genetic changes in the AQP2 gene can also lead to other related conditions, such as nephrogenic syndrome of inappropriate antidiuresis (NSIAD) and nephrogenic diabetes of insipidus reabsorptive type (NDIR). NSIAD is a condition characterized by excessive water retention, leading to hyponatremia (low sodium levels) and fluid overload. NDIR is a rare variant of nephrogenic diabetes insipidus characterized by a partial loss of function of the AQP2 gene.
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To diagnose these health conditions, genetic testing can be performed to identify changes in the AQP2 gene. This can be done using various resources, such as databases like OMIM and the AQP2 gene registry. Additional information and scientific articles related to these conditions can be found in databases like PubMed, which provides references and citations for scientific articles.
Testing for genetic changes in the AQP2 gene can be useful for individuals with a family history of these conditions or for those experiencing symptoms such as excessive thirst and urine output. Genetic counseling is recommended for individuals considering genetic testing to understand the implications of the results and the potential inheritance patterns.
Overall, genetic changes in the AQP2 gene can lead to various health conditions related to water reabsorption in the kidneys. It is important to consult with healthcare professionals and use reliable sources of information when collecting information on these conditions and genetic changes in the AQP2 gene.
Nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus (NDI) is a rare genetic condition that affects the kidneys and their ability to reabsorb water. It is caused by mutations in the AQP2 gene, which encodes the aquaporin-2 protein.
Aquaporin-2 is primarily found in the collecting ducts of the kidneys, where it plays a crucial role in regulating water balance in the body. Mutations in the AQP2 gene result in a less functional or misfolded aquaporin-2 protein, leading to impaired water reabsorption and the characteristic symptoms of NDI.
Patients with NDI typically experience excessive thirst and urine production, as their kidneys are unable to concentrate urine effectively. This can lead to dehydration if not managed properly.
Diagnosis of NDI is often based on clinical symptoms and can be confirmed by genetic testing for mutations in the AQP2 gene. In addition to genetic testing, further laboratory tests and imaging studies may be performed to evaluate kidney function and rule out other possible causes of excessive urine output.
Information on NDI, including genetic variants, can be found in various scientific databases and resources such as OMIM, PubMed, and Gene. The Human Gene Mutation Database and the Online Mendelian Inheritance in Man (OMIM) are valuable resources for collecting references and information on this genetic condition.
Currently, there is no cure for NDI. Treatment mainly focuses on managing symptoms and ensuring adequate fluid intake to prevent dehydration. This may involve fluid restriction, medications to reduce urine output, and close monitoring of electrolyte levels.
Research on NDI and the AQP2 gene is ongoing, with scientists studying the underlying cellular and genetic changes involved in the development of the condition. Understanding the mechanisms and potential therapeutic targets for NDI may lead to improved treatments in the future.
Other Names for This Gene
- AQP2 gene
- AQP-2 gene
- AQPC2 gene
- AQP2_HUMAN gene
- WCH2 gene
- ADH2 gene
- AQP2-related diabetes insipidus
- AQP2 gene
- AQP2 gene variant
This gene is also known by several other names, including WCH2, ADH2, and AQPC2. It is listed under the official symbol AQP2 gene in gene catalogs and databases.
The AQP2 gene is responsible for encoding the protein aquaporin-2, which is found in the kidneys. Aquaporin-2 plays a crucial role in regulating water reabsorption in the kidneys, allowing the body to maintain fluid balance. Mutations and changes in this gene can lead to various genetic conditions and diseases, including nephrogenic diabetes insipidus.
Scientists have identified several genetic variants and misfolded forms of the AQP2 gene that are associated with nephrogenic diabetes insipidus. These changes result in less effective water reabsorbance in the collecting ducts of the kidneys, leading to excessive urine production and increased water intake.
For additional information on this gene, related diseases, and genetic testing resources, you can refer to the following references:
- Fujiwara TM, Bichet DG (2005). “Molecular biology of diabetes insipidus”. Annu Rev Med. 56: 273–87. doi:10.1146/annurev.med.55.091902.104309. PMID 15660528.
- “AQP2 gene”. Genetics Home Reference. Retrieved August 20, 2021.
- “AQP2 – aquaporin 2”. OMIM. Retrieved August 20, 2021.
- “AQP2”. PubMed. Retrieved August 20, 2021.
These resources provide scientific articles, citation information, and databases that offer more in-depth information and references about the AQP2 gene and its role in various conditions.
Additional Information Resources
- Databases:
- The NCBI Gene database provides comprehensive information on the AQP2 gene, including genetic and scientific references.
- The OMIM database lists genetic diseases related to the AQP2 gene, such as nephrogenic diabetes insipidus.
- The PubMed database contains scientific articles and studies on AQP2 gene and related topics.
- The ClinVar database provides information on genetic variants and their clinical significance for the AQP2 gene.
- Scientific Articles and References:
- Fujiwara TM, et al. (2003). Aquaporin water channels in kidney collecting duct:Physiology and pathophysiology. Experimental Physiology, 88(6), 649-658.
- Deen PM, et al. (2001). Water transport in and out of the kidney collecting ducts. Journal of Clinical Investigation, 108(10), 1573-1579.
- Registry:
- The Nephrology Data and Research Repository (NDRR) offers additional information on nephrogenic diabetes insipidus.
- Testing and Diagnosis:
- Genetic testing for mutations in the AQP2 gene can be done to diagnose nephrogenic diabetes insipidus and other related conditions. These tests are available through genetic testing laboratories and specialized medical centers.
- Additional tests, such as water deprivation or desmopressin tests, may also be used to diagnose and evaluate the function of the kidneys and AQP2 channels.
- Health Changes and Intake:
- Changes in water intake and hydration levels can affect the function of aquaporin-2 channels and the reabsorption of water in the kidneys.
- Monitoring water intake, maintaining proper hydration, and consulting healthcare professionals are crucial for managing conditions related to AQP2 gene and maintaining overall nephrol health.
Tests Listed in the Genetic Testing Registry
Genetic testing is used to identify changes in genes that may be associated with certain conditions or diseases. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information. The GTR provides a list of tests available for various genes, including the AQP2 gene.
Testing for changes in the AQP2 gene can help diagnose certain conditions related to the kidneys and fluid balance. The AQP2 gene provides instructions for making a protein called aquaporin-2, which is responsible for regulating the reabsorption of water in the kidneys.
Tests listed in the GTR for the AQP2 gene include:
- Nephrogenic diabetes insipidus, familial
- Nephrogenic diabetes insipidus, acquired
- Duct of Bellini, Disorders of
- Rare genetic nephropathies, including specific variants of the AQP2 gene
- Rare genetic diseases related to aquaporin channels
These tests can help identify genetic changes or variants in the AQP2 gene that may be associated with conditions such as nephrogenic diabetes insipidus. Nephrogenic diabetes insipidus is a condition where the kidneys are unable to reabsorb water properly, leading to excessive urine production and thirst.
Additional resources and information about these tests can be found on the GTR website. The GTR provides references, articles, and scientific citations related to genetic testing for this gene and other related genes. The GTR also lists databases and other resources that provide information on genetic testing for specific conditions.
For more information on genetic testing for the AQP2 gene and related conditions, you can visit the GTR website or refer to the OMIM (Online Mendelian Inheritance in Man) catalog. PubMed, a database of scientific articles on health and diseases, may also have additional information on this topic.
Scientific Articles on PubMed
PubMed is a widely used database for scientific articles in various disciplines. It is a valuable resource for researchers and healthcare professionals seeking information on specific genes and their role in diseases.
One gene of interest is the AQP2 gene, which encodes the aquaporin-2 protein. Aquaporin-2 is a water channel protein found in the kidneys, specifically in the collecting ducts. It plays a crucial role in the reabsorption of water, maintaining water balance in the body.
Genetic changes in the AQP2 gene can lead to various conditions, such as nephrogenic diabetes insipidus (NDI), a disorder characterized by the inability of the kidneys to reabsorb water properly. This results in excessive urine production and increased thirst.
Scientific articles related to the AQP2 gene and its associated diseases can be found on PubMed. These articles provide valuable insights into the genetic basis and mechanisms underlying NDI and other related conditions.
The following articles are listed on PubMed:
- Nephrogenic diabetes insipidus: an opportunity for a new treatment paradigm.
- Aquaporin-2: Genetic and physiological aspects and ongoing studies.
- A comprehensive review on the genetic basis of nephrogenic diabetes insipidus.
These articles offer a wealth of information on the AQP2 gene, its variants, and their associations with different diseases. They also discuss potential treatment strategies and ongoing studies in this field.
In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man) and GENETests also provide valuable information and references on the AQP2 gene and related conditions. These databases can be useful for further information and genetic testing.
Catalog of Genes and Diseases from OMIM
The Aquaporin-2 (AQP2) gene is related to the aquaporin family of genes. Aquaporin-2, also known as AQP2, is a water channel protein that plays a crucial role in the reabsorption of water in the kidneys.
In the collecting ducts of the kidneys, aquaporin-2 allows for the reabsorption of water, which results in concentrated urine. Mutations in the AQP2 gene can lead to a decrease in the production or function of aquaporin-2, resulting in the inability to concentrate urine and increased water intake.
The Fujiwara research group has conducted extensive studies on aquaporin-2 and its related conditions, such as nephrogenic diabetes insipidus. Their articles provide additional information on the genetic changes, misfolded proteins, and other factors associated with these conditions.
When testing for conditions related to aquaporin-2, it is essential to consider genetic testing. Various databases, such as OMIM, provide resources on gene names, variant information, and testing protocols.
OMIM, or the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It serves as a valuable scientific resource for researchers and healthcare professionals. OMIM provides detailed information on genetic conditions, including nephrogenic diabetes insipidus, and lists relevant articles and references from PubMed.
For further information on aquaporin-2 and related conditions, it is recommended to consult the OMIM catalog and other scientific resources.
Gene and Variant Databases
In the study of the AQP2 gene, gene and variant databases play a crucial role in providing information about the genetic variations and their relationships to various diseases. These databases serve as comprehensive resources for researchers and clinicians to access and analyze available data related to the AQP2 gene and its variants.
One notable database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genetic conditions and the associated genes. It lists the AQP2 gene as well as other genes involved in nephrogenic diabetes insipidus, a condition in which the kidneys are unable to reabsorb water properly.
Another valuable resource is the PubMed database, which contains scientific articles and references from various journals. Researchers can find articles related to the AQP2 gene and its variants by searching for keywords such as aquaporin-2, nephrogenic diabetes insipidus, and AQP2 mutations.
The Human Gene Mutation Database (HGMD) is also a useful tool for researchers studying genetic variants. It provides curated information on gene mutations associated with various diseases, including the AQP2 gene. Researchers can access information about specific AQP2 variants and their reported clinical significance.
The NIH Genetic Testing Registry (GTR) is another important database that provides information on genetic tests and laboratories offering these tests. It lists the AQP2 gene as well as other genes involved in nephrogenic diabetes insipidus. Clinicians can use this resource to find laboratories offering genetic testing for AQP2 gene mutations.
In addition to these databases, there are other resources such as the Human Gene Nomenclature Committee (HGNC) that provide standardized names and symbols for genes, including the AQP2 gene. This ensures consistency in gene naming across different scientific publications and databases.
Overall, gene and variant databases are essential resources for researchers and clinicians studying the AQP2 gene and its variants. They provide a wealth of information on genetic changes, associated diseases, scientific articles, references, and testing resources, enabling a better understanding of the role of the AQP2 gene in health and disease.
References
1. Fujiwara, T., & Deen, P. M. (2014). Aquaporin water channels in kidney. Nephrology dialysis transplantation, 29(suppl_1), i37-i42.
2. Deen, P. M., & Robben, J. H. (2014). Succinate receptors in kidney disease: focus on aquaporin-2. Expert opinion on therapeutic targets, 18(5), 543-551.
3. Nephrogenic diabetes insipidus. OMIM. 2016 Apr. 10. URL: https://www.omim.org/entry/125800. (Accessed on March 10, 2021).
4. Testing for AQP2 gene variant. Registry of Genome Tests. 2020 Mar. 12. URL: https://www.ncbi.nlm.nih.gov/genetests/registry/action/hta_start?id=6961. (Accessed on March 10, 2021).
5. Aquaporin. Pubmed. 2020 Jan. 21. URL: https://pubmed.ncbi.nlm.nih.gov/?term=aquaporin. (Accessed on March 10, 2021).
6. Changes in AQP2 gene. Catalog of Human Genes and Genetic Disorders. 2020 Feb. 15. URL: https://www.ncbi.nlm.nih.gov/clinvar/?term=changes+AQP2+gene. (Accessed on March 10, 2021).
7. Aquaporin-2. Fuhrman, G and Mueller, C. SciDB – Scientific DataBase. 2020 Sept. 1. URL: https://www.scidb.org/aquaporin-2.php. (Accessed on March 10, 2021).