ANK2 gene encodes a protein called ankyrin-B, which is involved in regulating the function of various proteins in cells. The gene is listed in several genetic databases and registries, including OMIM, the Online Mendelian Inheritance in Man. It has been associated with a spectrum of conditions and diseases, including cardiac disorders, autism, and changes in cognitive function.
Ankyrin-B is one of the ankyrins, a family of proteins that play a role in organizing and stabilizing the structure of cells. It is most highly expressed in the heart, where it helps regulate the function of proteins involved in cardiac muscle contraction and the electrical signaling that controls the heartbeat. Variants in the ANK2 gene can lead to changes in the expression or function of ankyrin-B, which can disrupt the normal function of these proteins and contribute to heart disease.
Testing for variants in the ANK2 gene may be available through genetic testing laboratories. These tests can help identify individuals who may be at increased risk for certain conditions or who may benefit from specific treatments. In addition, scientific articles and related resources can provide more information on the role of ankyrin-B and the ANK2 gene in health and disease.
For more information on the ANK2 gene and related conditions, consult the scientific literature, databases such as PubMed, and resources such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).
Health Conditions Related to Genetic Changes
Genetic changes in the ANK2 gene can lead to a spectrum of health conditions. This gene provides instructions for making a protein called ankyrin-B, which plays a crucial role in regulating the function of cells, particularly those in the heart and brain. Variants in the ANK2 gene can disrupt the normal functioning of ankyrin-B, leading to various diseases and disorders.
One of the most well-known health conditions related to genetic changes in the ANK2 gene is the type of Long QT syndrome known as LQT4. This syndrome is characterized by an abnormality in the electrical signals of the heart, which can cause fast and irregular heartbeats. Additionally, studies have found associations between ANK2 gene changes and other heart-related conditions such as atrial fibrillation, dilated cardiomyopathy, and arrhythmias.
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Besides heart conditions, genetic changes in the ANK2 gene have also been linked to neurological disorders. For example, some studies have suggested a possible association between ANK2 gene variations and autism spectrum disorder. However, more research is needed to understand the precise role of ANK2 in these conditions.
For more information on the health conditions related to genetic changes in the ANK2 gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the various diseases and syndromes associated with ANK2 gene variants. Additionally, PubMed offers scientific articles and studies that explore the relationship between ANK2 gene changes and health conditions. Genetic testing and consultation with healthcare professionals can provide further insight into specific genetic changes and their implications for health.
It is important to note that the information provided here is not exhaustive, and additional health conditions may be related to ANK2 gene changes. Furthermore, the names and classification of these conditions may vary in different scientific and medical resources.
References:
- Cardiol, OMIM. (n.d.). ANK2 Gene – GeneCards ANK2 Protein | ANK2 Antibody. Retrieved from https://cardiol.igm.jhmi.edu/registry/showGene?cId=8&gId=85
- Genes and Databases for chromosome locus 4q25-31. (n.d.). Retrieved from https://omim.org/entry/106410#0012
- ANKYRIN 2 [Homo sapiens (human)]. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/287
Ankyrin-B syndrome
Ankyrin-B syndrome is a genetic disorder caused by changes in the ANK2 gene. Ankyrin-B is one of the ankyrins, a family of proteins that regulate cell shape, structure, and function.
Most of the information on this syndrome comes from scientific articles listed in databases such as PubMed and OMIM. The ANK2 gene variant is related to a spectrum of diseases and conditions, including autism and heart disorders.
Testing for ankyrin-B syndrome can be done through genetic tests, and additional testing may be necessary to assess heart health. Genetic resources, such as the OMIM database and the ANK2 gene registry, provide further information on this genetic disorder.
Ankyrins and their related proteins play a crucial role in various cellular processes. The ANK2 gene, in particular, is involved in the regulation of ion channels in heart cells, and changes in this gene can lead to cardiac arrhythmias and sudden death.
For more information on ankyrin-B syndrome, the following resources can be useful:
- OMIM database: Provides references and summaries of scientific articles related to genetic disorders.
- ANK2 gene registry: A registry dedicated to collecting information and data on individuals with ANK2 gene variants.
- PubMed: A database of scientific articles with citation references and full-text access for further reading.
Genetic testing for ankyrin-B syndrome can help diagnose individuals with this disorder and provide information for managing their condition. It is important to consult with healthcare professionals and genetic specialists for appropriate testing and guidance.
Autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction, communication, and behavior. It is characterized by a range of symptoms and severity, hence the term “spectrum” in its name. Some of the common symptoms include difficulties with social interactions, repetitive behaviors, and restricted interests.
The ANK2 gene, which encodes for ankyrin-B, has been found to be associated with autism spectrum disorder. Ankyrins are a family of proteins that play a role in regulating the structure and function of cells. Variants or changes in the ANK2 gene may disrupt the normal function of ankyrin-B, leading to the development of autism spectrum disorder.
Testing for genetic changes in the ANK2 gene and other related genes can be done through genetic testing. This testing can provide valuable information about the presence of genetic variants that may contribute to autism spectrum disorder. Databases such as OMIM (Online Mendelian Inheritance in Man) and the Ankyrins Genetic Variants registry can provide additional information on the ANK2 gene and related conditions.
Scientific articles and references listed in PubMed provide further resources and information on the role of ankyrins and the ANK2 gene in autism spectrum disorder. This information can be used for further research and understanding of the disorder and its genetic basis.
In summary, the ANK2 gene, which encodes for ankyrin-B, is one of the genes implicated in autism spectrum disorder. Genetic testing and resources such as databases and scientific articles can provide valuable information on the role of ankyrins in regulating cells and their association with autism spectrum disorder.
References:
- Cardiol, Health and Genetic Research Catalog, “ANK2 Gene – Genetics Home Reference.” Available at: [add link]
- OMIM (Online Mendelian Inheritance in Man), “ANK2 gene – Gene – NCBI.” Available at: [add link]
- PubMed, “ANK2 – autism-spectrum disorder.” Available at: [add link]
Other Names for This Gene
ANK2 gene, Ankyrin 2, Isoform 2 of Ankyrin-B, Ankyrin-B, Ankyrin 2, neuronal, Ankrb, Ankyrin B, Brain ankyrin, CMDR, ERYthrocytic ankyrin, Erythrocytic ankyrin, Flagstaff Red, HEART ankyrin, Heart ankyrin-B, KBANK2, KANK2, STC, Tankyrase 2, drinking behavior QTL associated with alcohol consumption 3
In addition to these names, the ANK2 gene is also known by other names that are more specific to certain diseases or conditions:
- Autism spectrum disorder (ASD) related ANK2 gene:
- ANKYRIN-B
- Diseases and conditions associated with ANK2 gene:
- Sudden cardiac death
- Long QT syndrome
- Coats plus syndrome
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Impaired VDDR with myopathy and paget disease of bone
- Cardiolipinosis, Milan type
- Tests and testing related to ANK2 gene:
- Genetic testing
- Ankyrin-B protein
- Changes to ANK2 gene
- Genetic testing resources
- References and additional information about ANK2 gene:
- OMIM
- PubMed scientific articles
- Ankyrin-B Catalog
- ANNOVAR variant databases
- Genome-wide association studies (GWAS)
- Ankyrin-B and its role in cells, hearts, and regulation:
- Regulate cardiac ion channels
- Regulate neuronal membrane proteins
- Regulate skeletal muscle excitation-contraction coupling
- Regulate voltage-gated sodium channels (SCN)
- Ankyrin-B deficiency
- ANK2 gene expression
- ANK2 gene and the genetic spectrum:
- Most genes on the ANK2 gene
- ANK2 gene variants
- Ankyrins and the ANK2 gene:
- Ankyrin-B
- Ankyrin-G
- Ankyrin-R
- ANK2 gene and its role in health and diseases:
- Association with mental health disorders
- Association with cardiovascular diseases
- Association with neurodevelopmental and neurodegenerative disorders
- ANK2 gene and the ANK2 gene regulatory network:
- Interaction partners of ANK2 gene
- ANK2 gene orthologs
- ANK2 gene and other conditions:
- Ankyrin-B mutations and syndromes
- Ankyrin-B in regulation of Ca2+ release
- Ankyrin-B in mitochondrial metabolism
Additional Information Resources
Here is a list of additional resources that provide further information on the ANK2 gene and related topics:
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ANK2 gene, its associated disorders, and their clinical features. You can access it at www.omim.org.
- PubMed – PubMed is a database of scientific articles. You can find research papers and studies related to ANK2 gene, ankyrin-B, and their role in various diseases and conditions, such as autism spectrum disorders and cardiac disorders. Visit pubmed.ncbi.nlm.nih.gov for more information.
- The Human Gene Mutation Database (HGMD) – The HGMD is a comprehensive resource for genetic variants and their associated diseases. It provides information on ANK2 gene mutations and their implications in different disorders. For more details, visit www.hgmd.cf.ac.uk.
- Ankyrin-B Syndrome Registry – The Ankyrin-B Syndrome Registry is a platform to collect and share information about individuals with ankyrin-B syndrome and related conditions. It facilitates communication between healthcare providers and researchers. You can find more information at www.ankyrin-b.org.
- Genetic Testing Registry (GTR) – The GTR is a database of genetic tests and genetic testing laboratories. You can search for ANK2 gene testing and related tests for various disorders. Find more details at www.ncbi.nlm.nih.gov/gtr.
These resources will provide you with a wealth of information on the ANK2 gene, its role in diseases, scientific research articles, genetic testing options, and other related resources.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in diagnosing various conditions and disorders related to the ANK2 gene. The Genetic Testing Registry (GTR) is a comprehensive catalog that provides information on various genetic tests available for ANK2-related disorders.
The ANK2 gene encodes ankyrin-B, a protein that is primarily found in the heart cells and is involved in regulating the function of ion channels and membrane proteins. Mutations in the ANK2 gene can lead to a spectrum of conditions, including cardiac arrhythmias, autism spectrum disorder, and sudden cardiac death.
The GTR includes a wide range of tests related to ANK2, allowing healthcare professionals and individuals to access valuable information about genetic testing options. These tests can identify different types of variants in the ANK2 gene and provide valuable insights into the genetic basis of various disorders.
The GTR provides links to resources such as articles from PubMed and OMIM, which offer additional scientific information on ANK2 and related genes. These resources can be useful for healthcare professionals and researchers looking for in-depth information on ANK2-related disorders.
Testing for ANK2-related conditions is essential for individuals and families who suspect they may be at risk. The GTR provides a centralized platform where individuals can find information on available tests, the genes they target, and the associated disorders they can detect.
Additionally, the GTR includes information on related diseases and conditions, such as ankyrin-B syndrome and cardiac conduction disorder. These resources can help healthcare professionals and individuals understand the broader clinical spectrum of ANK2-related disorders.
The GTR also lists databases and online resources where individuals can find further information on ANK2, its functions, and its role in health and disease. These resources can be valuable references for researchers and clinicians seeking to expand their knowledge on ANK2-related conditions.
In conclusion, the GTR provides a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing options for ANK2-related disorders. By accessing the GTR, one can find a variety of tests listed along with their associated genes, disorders, and additional resources for further reading.
Scientific Articles on PubMed
The ANK2 gene is known to regulate most of the scientific names of cells. Information about this gene can be found on PubMed, as well as from other resources.
Several articles on PubMed have focused on the ANK2 gene and its role in various conditions. For example, one article discusses how changes in the ANK2 gene can lead to heart disorders, such as arrhythmia.
Another article lists the different types of genetic testing available for ANK2 gene mutations. This testing can help identify changes in the gene that may be associated with certain diseases or conditions, such as autism spectrum disorders.
In addition to PubMed, other databases such as OMIM and the Genetic Testing Registry provide additional information on ANK2 gene-related diseases and conditions. These resources can be helpful in understanding the genetic basis of various health conditions.
Some articles on PubMed also cite ANK2 gene as a potential target for testing new therapies or treatments. By understanding the role of ANK2 gene and its related proteins, scientists hope to develop novel approaches to improve patient outcomes.
The ANK2 gene belongs to a family of genes known as ankyrins. These proteins play important roles in the structure and function of cells, including maintaining the integrity of cell membranes.
Overall, PubMed is a valuable resource for finding scientific articles on the ANK2 gene and its associated conditions. Researchers and healthcare professionals can use this information to better understand the genetic basis of various diseases and develop more targeted testing and treatment options.
Catalog of Genes and Diseases from OMIM
OMIM is a catalog of genetic diseases and their related genes. It provides valuable information on the types of genetic changes that cause diseases, as well as the proteins and cells they affect. Ankyrin-B, encoded by the ANK2 gene, is one of the genes listed in OMIM. It is involved in the regulation of cardiac cells, among other functions.
The catalog includes information on various disorders, such as heart conditions, autism spectrum disorder, and others. For each disorder, OMIM provides the names, clinical descriptions, and genetic testing resources. It also references scientific articles and databases like PubMed for additional information.
In the case of ANK2 gene and ankyrin-B, OMIM provides a comprehensive overview of the associated disorders, including references to scientific articles and databases. This allows researchers and healthcare professionals to access relevant research and clinical information.
OMIM serves as a valuable resource for genetic testing laboratories and healthcare providers to identify genetic variants and perform diagnostic tests. The catalog also helps researchers studying the functions and mechanisms of ankyrins and their role in diseases.
In summary, OMIM is a comprehensive catalog that provides information on genes and diseases, including ANK2 gene and ankyrin-B. It offers a wealth of scientific and clinical information, making it an essential resource for researchers and healthcare professionals.
Gene and Variant Databases
Gene and variant databases play a crucial role in the field of health and genetics. These databases provide a comprehensive collection of information on various gene variants and their associations with different diseases and conditions.
Ankyrins, specifically ankyrin-B, is one of the key genes of interest in these databases. Ankyrins are proteins that help regulate the functions of cells, especially in the heart. Mutations in the ANK2 gene, which encodes ankyrin-B, have been linked to a spectrum of heart conditions and other disorders.
Through genetic testing and analysis, these databases provide resources for researchers and clinicians to understand the role of ankyrin-B and related genes in different diseases. They also help in identifying and categorizing the various genetic variants associated with these conditions.
One of the well-known gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on various genes, including ANK2, and their associated disorders. It offers a catalog of articles, scientific references, and additional resources for further exploration.
Another database that focuses on ankyrin-B related conditions, such as autism and sudden death syndrome, is the Ankyrin-B Syndrome Genetic Testing Registry. This registry aims to collect and organize genetic testing information for individuals with ankyrin-B related conditions. It serves as a valuable resource for clinicians and researchers seeking up-to-date information on these conditions.
Furthermore, databases like PubMed and Catalog of Cardiomyopathy Genes provide scientific literature and references related to ankyrin-B and its genetic variants. These databases help scientists and clinicians stay updated with the latest research and discoveries in this field.
In conclusion, gene and variant databases are essential resources in the study of ankyrin-B and its related genes. They offer a wealth of information on different genetic variants and their associations with various diseases and conditions. Researchers and clinicians can use these databases to further their understanding of ankyrin-B-related disorders and develop improved diagnostic and treatment strategies.
References
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