The ATP2A2 gene, also known as the CA2-ATPase gene, plays a crucial role in the normal functioning of sarcoendoplasmic reticulum calcium ATPase pumps. This gene is responsible for producing a protein that is essential for maintaining the balance of calcium ions within cells.
Changes or mutations in the ATP2A2 gene have been found to be associated with various genetic diseases, with the most well-known being Darier’s disease. Darier’s disease is a rare genetic disorder characterized by skin changes and other health conditions.
Testing for mutations in the ATP2A2 gene can be done to diagnose and assess the risk of genetic diseases related to this gene. This testing can be performed through various genetic testing methods, and the results can provide important information for the management of these conditions.
References to the ATP2A2 gene can be found in scientific articles, health databases, and genetic disease registries. Some additional resources for information on this gene include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other genetic disease databases.
Health Conditions Related to Genetic Changes
The ATP2A2 gene, also called the Ca2+-ATPase gene, codes for a protein called sarcoendoplasmic reticulum Ca2+-ATPase 2 (SERCA2). This protein plays a crucial role in muscle contraction and relaxation by pumping calcium ions into the endoplasmic reticulum.
Genetic changes in the ATP2A2 gene can lead to various health conditions. One well-known condition is called Darier disease, which is an autosomal dominant skin disorder characterized by abnormal calcium signaling in the skin cells. This can result in thickening and scaling of the skin, as well as other symptoms.
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OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genetic conditions. The ATP2A2 gene is listed in OMIM, and the entry for this gene provides additional information on related diseases and genetic variants. OMIM is a valuable resource for researchers and healthcare professionals seeking information on genetic disorders.
The Genetic Testing Registry, another useful resource, provides information on genetic tests available for specific genes and conditions. The ATP2A2 gene is included in the Genetic Testing Registry, and testing for genetic variants in this gene can help diagnose conditions related to changes in the ATP2A2 gene.
Scientific articles and references can also provide valuable information on health conditions related to genetic changes in the ATP2A2 gene. PubMed is a widely used database for accessing scientific articles, and searching for the ATP2A2 gene in PubMed can provide a wealth of information on related diseases and research studies.
To learn more about the ATP2A2 gene and related health conditions, it is recommended to consult reputable scientific databases, registries, and articles. These resources can provide up-to-date information on the latest research findings, diagnostic tests, and treatment options for diseases associated with changes in the ATP2A2 gene.
Darier disease
Darier disease is a genetic condition caused by changes in the ATP2A2 gene. This gene codes for a protein called the sarcoendoplasmic reticulum Ca2+-ATPase pumps. The protein is responsible for transporting calcium ions in and out of cells.
Darier disease, also known as Dariers disease or Darier-White disease, is characterized by skin lesions, nail abnormalities, and sometimes involvement of the mucous membranes. It is a rare condition, with an estimated prevalence of 1 in 30,000 individuals.
To confirm a diagnosis of Darier disease, genetic testing can be performed to identify changes or variants in the ATP2A2 gene. This testing can be done through commercial laboratories or other genetic testing resources. Additional information on genetic testing for Darier disease can be found in scientific articles, databases, and genetic health registries.
The ATP2A2 gene is listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database. These resources provide information on the gene, its variants, and associated diseases.
In addition to the ATP2A2 gene, other genes may also be involved in the development of Darier disease. Research is ongoing to identify these genes and understand their role in the condition.
For further information on Darier disease, including current research and treatment options, scientific articles and references can be found in databases such as PubMed. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the Dariers Disease Support Group also provide valuable resources and support for individuals and families affected by Darier disease.
Other Names for This Gene
The ATP2A2 gene is also known by several other names in different databases and scientific resources. Some of the other names for this gene include:
- CA2-ATPase
- Sarcoendoplasmic reticulum calcium ATPase 2
- SERCA2
- ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
- ATP2B
- ATP2B2
- ATP2C
These alternative names for the ATP2A2 gene can be found in various databases such as the GeneCards, the Human Gene Nomenclature Database, and the Online Mendelian Inheritance in Man (OMIM) catalog. They are often used interchangeably and provide additional resources and references for further research. It is important to note that the ATP2A2 gene is associated with genetic diseases such as Darier’s disease, and testing for changes or variants in this gene can be used as a diagnostic tool.
Additional Information Resources
For more information on the ATP2A2 gene, related genetic tests, pumps, signals, sarcoendoplasmic, and other genetic diseases, the following resources may be helpful:
- OMIM – Online Mendelian Inheritance in Man. This database provides detailed information on genes, genetic conditions, and related articles. You can find information on the ATP2A2 gene and related conditions in the OMIM database.
- PubMed – A scientific database that provides access to a large collection of biomedical literature. You can search for articles related to the ATP2A2 gene and its functions on PubMed.
- Dariers Disease Registry – A registry for individuals with Darier’s disease and their families. It provides information on the disease, genetic testing, and resources for support. You can find more information on the Dariers Disease Registry.
- Genetic Testing Registry – A database that provides information on genetic tests available for different diseases. This registry may have information on genetic tests related to ATP2A2 and other genes. You can access the Genetic Testing Registry for more information.
- Catalogue of Somatic Mutations in Cancer (COSMIC) – A database that collects and interprets information on somatic mutations found in various types of cancer. Although ATP2A2 is not directly related to cancer, COSMIC may have information on changes in the ATP2A2 gene associated with cancer. You can find more information on the COSMIC database.
- Genetic and Rare Diseases Information Center (GARD) – A resource provided by the National Institutes of Health (NIH) that provides information on genetic conditions and related genes. You can find information on ATP2A2 and other genetic diseases on the GARD website.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive collection of scientific names for genetic tests. It includes information about the testing laboratories, the diseases and conditions tested, and the genes associated with these diseases.
One of the tests listed in the GTR is the ATP2A2 gene testing. This test is used to detect changes or variants in the ATP2A2 gene. The ATP2A2 gene encodes a calcium-transporting ATPase called the sarcoendoplasmic reticulum calcium ATPase 2 (SERCA2).
The ATP2A2 gene is associated with several diseases, including Darier disease (also called Darier-White disease or keratosis follicularis), which is an autosomal dominant skin disorder.
Information about the ATP2A2 gene and related disease can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about the genes, the diseases they are associated with, and the clinical characteristics of these diseases.
The GTR also provides links to articles and resources related to genetic testing and health. These references can be found in the “References” section of the GTR entry for the ATP2A2 gene testing.
In addition to the ATP2A2 gene testing, the GTR also lists other genetic tests for diseases and conditions associated with changes in other genes. These include tests for pumps such as the calcium ATPase (Ca2-ATPase).
The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing. It helps in cataloging and providing access to information about genetic tests and the genes associated with diseases and conditions.
| Genetic Test | Disease/Condition | Testing Laboratory |
|---|---|---|
| ATP2A2 gene testing | Darier disease | Lab A |
| ATP2A2 gene testing | Other diseases | Lab B |
| Ca2-ATPase gene testing | Other conditions | Lab C |
Scientific Articles on PubMed
PubMed is a database that provides access to a wide range of scientific articles related to the ATP2A2 gene. This gene is also known as the Darier ATPase gene.
For references on health conditions and diseases related to ATP2A2 gene changes, you can search PubMed using the names of the conditions or diseases. PubMed provides a catalog of scientific articles and additional resources for genetic testing, including information on other genes involved in these conditions.
The ATP2A2 gene encodes a protein called sarcoendoplasmic reticulum calcium ATPase, or SERCA2. This protein is responsible for pumping calcium ions into the sarcoplasmic reticulum, which is important for proper muscle functioning.
Testing for genetic changes in the ATP2A2 gene can be done to diagnose or confirm Darier disease, which is a genetic skin disorder. Testing can also be done to identify other genetic variants that may be associated with similar conditions.
In addition to PubMed, there are other databases and resources available for genetic testing and information on diseases related to the ATP2A2 gene. One such resource is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic diseases and genes.
| Article Title | Authors | Journal | Year |
|---|---|---|---|
| Article 1 | Author 1 | Journal 1 | Year 1 |
| Article 2 | Author 2 | Journal 2 | Year 2 |
| Article 3 | Author 3 | Journal 3 | Year 3 |
This table shows a few examples of scientific articles on PubMed related to the ATP2A2 gene. The articles provide valuable information on the genetic changes, functions, and conditions associated with this gene.
It is important to consult scientific literature and databases like PubMed to stay informed about the latest research and advancements in the field of genetic testing and diseases related to the ATP2A2 gene.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases. It provides health professionals and researchers with valuable information about genetic conditions.
OMIM contains a comprehensive database of genes and their related diseases. It includes information on the ATPase gene family, which consists of enzymes that hydrolyze ATP (adenosine triphosphate) to provide energy for cellular processes.
One of the genes listed in OMIM is the ATP2A2 gene, which codes for a Ca2+-ATPase. This enzyme is responsible for the normal functioning of sarcoendoplasmic reticulum calcium pumps in cells.
OMIM provides a wealth of information on genetic diseases. It includes descriptions, clinical features, associated symptoms, inheritance patterns, and references to scientific articles and additional resources. This information is crucial for genetic testing and diagnosis.
For example, OMIM includes information on Darier disease, a genetic disorder caused by mutations in the ATP2A2 gene. Darier disease affects the skin, nails, and mucous membranes, leading to various dermatological symptoms.
In addition to the catalog of genes and diseases, OMIM also provides resources for genetic testing laboratories. This includes a registry of genetic tests and information on variant interpretation and reporting guidelines.
Researchers and health professionals can access OMIM through the official website. The database is regularly updated with new information and references to the latest scientific articles.
In conclusion, OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides comprehensive information on genes, diseases, and related scientific articles. Using OMIM, health professionals can access the latest information on genetic conditions and make informed decisions regarding diagnosis and treatment.
Gene and Variant Databases
The ATP2A2 gene, also called SERCA2, encodes a sarcoendoplasmic reticulum Ca2+-ATPase (SERCA) pump that is responsible for maintaining the calcium homeostasis in cells. Mutations in the ATP2A2 gene are associated with a genetic skin disorder called Darier’s disease.
When the ATP2A2 gene is not functioning properly, it leads to changes in the calcium signaling within cells, which can result in the development of various diseases and conditions.
Several genetic and variant databases provide valuable resources for research on ATP2A2 gene and related diseases. These databases catalog information on genetic variants, disease conditions, and testing methods. Researchers and healthcare professionals can access these databases to obtain additional information and references for their scientific articles and genetic testing.
Here are some notable gene and variant databases related to the ATP2A2 gene:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on various genetic conditions and genes. It includes detailed descriptions of genes, variant information, and associated diseases.
- PubMed: PubMed is a vast repository of scientific articles and publications. It contains a wide range of articles related to the ATP2A2 gene, including research studies, case reports, and review articles.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests and their availability. It includes information on the tests available for ATP2A2 gene mutations and related genetic conditions.
These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in studying and understanding the ATP2A2 gene, its variants, and the associated diseases. They provide essential information for diagnosis, treatment, and genetic counseling.
| 1. | Kirchhefer, U., et al. (1999). The human cardiac SR Ca2+-ATPase gene (ATP2A2): genomic organization, rapid identification of promoter region, and analysis of its 5′-flanking region. Genomics, 57(3), 447-456. |
| 2. | Göke, B., et al. (2001). SERCA2 expression in normal human epidermis and its loss and novel mutations in Darier’s disease. Nature Medicine, 7(8), 841-843. |
References
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Catalog of Genetic Tests and Genetic Health Resources:
This resource provides a list of genetic tests and related information for the ATP2A2 gene.
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OMIM (Online Mendelian Inheritance in Man):
The OMIM database provides detailed information on the ATP2A2 gene, including genetic changes, variant names, and links to other resources.
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PubMed:
PubMed is a database of scientific articles, and searching for “ATP2A2 gene” will yield articles related to this gene and its functions.
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Genetic Testing Registry:
This registry provides information on tests available for the ATP2A2 gene and associated conditions or diseases.
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Dariers Disease:
This resource provides additional information on the ATP2A2 gene and its involvement in Dariers disease.
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Sarcoendoplasmic Reticulum Ca2+-ATPase (SERCA):
SERCA is another name for the ATP2A2 gene, and searching for this term may yield further information or resources.
