KCNH2 gene

Published Categorized as Genetics
KCNH2 gene

The KCNH2 gene, also known as hERG, encodes the potassium voltage-gated channel subfamily H member 2. This gene is catalogued in various databases and is associated with several cardiac disorders. Mutations in the KCNH2 gene have been linked to the development of long QT syndrome, a condition characterized by an increased risk for arrhythmias and sudden cardiac death.

KCNH2 mutations have also been found to be responsible for other familial diseases, including Romano-Ward syndrome and atrial fibrillation. These diseases are caused by changes in the function of the potassium channels produced by the KCNH2 gene. The KCNH2 gene plays a central role in the repolarization of the heart, as it controls the recharge of cardiac cells after each heartbeat.

Testing for mutations in the KCNH2 gene is available and can be useful in diagnosing and managing patients with related conditions. Scientific articles, health resources, and genetic databases provide additional information and references on the KCNH2 gene and related genetic variants. The OMIM database, PubMed, and the Romano-Ward Syndrome Registry are some of the resources where relevant articles and citation can be found.

Understanding the function of the KCNH2 gene and its interaction with other genes and proteins is crucial in unraveling the mechanisms underlying cardiac conditions. Ongoing research aims to shed light on the pathophysiology and potential treatments for these disorders. The KCNH2 gene and the potassium channels it encodes have a significant impact on the electrical signals and timing of the heart, making them important targets for diagnostic tests and therapeutic interventions.

Health Conditions Related to Genetic Changes

The KCNH2 gene is associated with various health conditions and disorders caused by genetic changes and mutations. Genetic changes in this gene can lead to abnormalities in the function of potassium channels, which are integral in regulating the electrical signals responsible for the heartbeat.

One known condition related to changes in the KCNH2 gene is Long QT syndrome (LQTS). LQTS is a cardiac disorder characterized by an abnormal heart rhythm that can potentially cause fainting, seizures, and even sudden cardiac arrest. There are several subtypes of LQTS, one of which is known as LQT2. LQT2 is caused by mutations in the KCNH2 gene.

Testing for genetic changes in the KCNH2 gene can be done through various resources and methods. Genetic testing can help identify specific mutations or variants in the gene that may be causing health conditions. This information can be crucial for determining treatment options and assessing the risk for developing certain diseases.

Here are some resources and databases that provide more information on health conditions related to genetic changes in the KCNH2 gene:

  • ClinVar: A public database that archives reports of relationships between genetic variants and their associated health conditions.
  • OMIM: A comprehensive catalog of human genes and genetic disorders.
  • PubMed: A scientific database that provides access to a vast collection of medical research articles and case studies.
  • The KCNH2 Registry: A registry specifically dedicated to collecting and organizing information on changes in the KCNH2 gene and associated health conditions.

Additional references and information can be found in scientific articles and publications related to familial atrial fibrillation, Romano-Ward syndrome, and other conditions caused by genetic changes in the KCNH2 gene. These resources can provide a more in-depth understanding of the function of the gene and the role it plays in various health conditions.

Romano-Ward syndrome

Romano-Ward syndrome is a familial condition characterized by changes in the KCNH2 gene, also known as the HERG gene. It is an autosomal dominant disorder, meaning that it can be inherited from one affected parent. This syndrome is primarily associated with mutations in the KCNH2 gene, but it can also be caused by mutations in other genes involved in cardiac electrical signaling.

Patients with Romano-Ward syndrome often present with a variety of symptoms, including atrial fibrillation and other types of abnormal heart rhythm. The condition is known to increase the risk of sudden cardiac death, particularly in cases where there is a family history of the syndrome.

The KCNH2 gene codes for a specific type of potassium channels that play a central role in the heart’s electrical signaling. These potassium channels are responsible for controlling the time it takes for the heart to recharge between each heartbeat. Mutations in the KCNH2 gene can lead to malfunctioning potassium channels, disrupting the normal heartbeat rhythm.

Genetic testing is available for individuals suspected of having Romano-Ward syndrome. The results of these tests can help confirm the diagnosis and provide additional information about the specific genetic variant or mutation involved. Family members of affected individuals may also consider genetic testing as a way to assess their own risk.

Publicly available resources, such as OMIM and PubMed, provide articles and references on Romano-Ward syndrome, as well as related genes and disorders. These databases are valuable tools for researchers and healthcare professionals seeking to understand the condition further or stay up-to-date with the latest scientific findings.

Overall, Romano-Ward syndrome is a familial condition caused by mutations in the KCNH2 gene, which result in abnormal potassium channels in the heart. The disorder can lead to various heart rhythm abnormalities and an increased risk of sudden cardiac death. Genetic testing plays a crucial role in diagnosing the syndrome and assessing the risk for affected individuals and their families.

Short QT syndrome

Short QT syndrome (SQTS) is a variant of Romano-Ward syndrome and is one of the rare cardiac channel disorders. It is characterized by a short QT interval on electrocardiogram (ECG) and is associated with an increased risk of life-threatening arrhythmias, including atrial fibrillation and ventricular fibrillation.

The KCNH2 gene, also known as hERG, is one of the genes related to SQTS. Mutations in this gene can lead to a shortened QT interval and contribute to the development of the condition. Other genes and proteins involved in the regulation of the cardiac channels may also play a role in SQTS.

Diagnosis of SQTS is usually based on ECG findings, family history, and clinical symptoms. Genetic testing can help identify specific mutations in the KCNH2 gene and other related genes. Additionally, evaluating the function of the ion channels through electrophysiological testing can provide further information about the condition.

There are several resources and databases available for additional scientific information on SQTS. The OMIM database and PubMed are commonly used to access relevant articles and genetic information. The Central Registry of Patients with Short QT Syndrome is listed as a valuable resource for research and clinical management of the condition.

Management and treatment of SQTS focus on reducing the risk of arrhythmias and associated complications. This may involve lifestyle changes, medication therapy, and implantation of cardiac devices, such as implantable cardioverter-defibrillators (ICDs).

In summary, Short QT syndrome is a rare genetic condition characterized by a shortened QT interval on ECG and an increased risk of life-threatening arrhythmias. Mutations in the KCNH2 gene and other related genes play a role in the pathogenesis of SQTS. Proper diagnosis, risk assessment, and management are essential for individuals with this condition to optimize their health and reduce the risk of cardiac events.

Familial atrial fibrillation

Atrial fibrillation (AF) is a common cardiac arrhythmia characterized by a rapid and irregular heartbeat. While most cases of AF are sporadic, there is also a strong genetic component to the disease. Familial atrial fibrillation refers to cases in which the condition is inherited within a family.

Research has identified several genes that are associated with familial AF. One of these genes is KCNH2, which encodes a protein that is involved in the function of potassium channels in the heart. Mutations in the KCNH2 gene can disrupt the normal electrical signals that regulate the heartbeat, leading to the development of AF.

Studies have shown that mutations in the KCNH2 gene are also associated with other cardiac conditions, such as long QT syndrome type 2 (LQT2). These conditions are characterized by changes in the electrical signals of the heart, which can increase the risk of arrhythmias like AF.

See also  MBD5 gene

Testing for mutations in the KCNH2 gene can be done to identify individuals at risk for familial AF. This genetic testing can help inform treatment strategies and provide valuable information about the underlying causes of the disease.

Additional genes and genetic variants have also been identified in familial AF. Some of these genes include those involved in ion channels, calcium signaling, and structural proteins in the heart. Changes in these genes can disrupt the normal function of the heart and contribute to the development of AF.

Familial AF is a complex condition, and further research is needed to fully understand the genetic and molecular mechanisms underlying the disease. However, the identification of these genes and variants has provided important insights into the pathophysiology of AF and has the potential to lead to new therapeutic approaches.

References:

  • Cordeiro, J.M., Burggren, W.W., & Wolpert, C. (2011). Familial atrial fibrillation is a genetically heterogeneous disorder. Cardiovascular Research, 89(4), 680–687. doi:10.1093/cvr/cvq314
  • OMIM. (n.d.). Atrial Fibrillation, Familial, 1. Retrieved from https://omim.org/entry/608583#0001
  • Cordeiro, J.M., & Burgess, D.E. (2019). Familial atrial fibrillation, atrial fibrillation susceptibility genes, and testing. Cardiovascular Diagnosis and Therapy, 9(Suppl 2), S446–S457. doi:10.21037/cdt.2019.11.02

Other disorders

There are various other disorders associated with the KCNH2 gene. The following is a catalog of some of the known disorders:

  • Long QT Syndrome (LQTS): This condition causes irregular heartbeats and can lead to fainting or sudden death. Mutations in the KCNH2 gene are known to cause LQTS, specifically LQT2.
  • Short QT Syndrome: This is another arrhythmia disorder that is caused by genetic changes in the KCNH2 gene.
  • Atrial Fibrillation: Certain variants in the KCNH2 gene have been associated with an increased risk of atrial fibrillation, a condition characterized by rapid and irregular heartbeats.
  • Familial Atrial Fibrillation: In some cases, mutations in the KCNH2 gene can lead to familial atrial fibrillation, a condition where multiple members of a family are affected.
  • Romano-Ward Syndrome: This is a genetic condition that is characterized by abnormalities in the electrical signals of the heart. Mutations in the KCNH2 gene can cause this syndrome.
  • Other Cardiac Disorders: The KCNH2 gene has been linked to various other cardiac disorders such as Brugada syndrome, familial coronary artery disease, and more.

For more information on these disorders and their genetic links to the KCNH2 gene, you may refer to the resources listed below:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders, including those related to the KCNH2 gene.
  • PubMed: A scientific database that offers a vast collection of research articles on different health-related topics, including studies on the KCNH2 gene and associated disorders.
  • ClinVar: This public archive offers information on the relationship between genetic variations and certain conditions, including disorders related to the KCNH2 gene.
  • Genetic Testing Registry (GTR): This registry provides information about genetic tests available for specific genes, including the KCNH2 gene.

Keep in mind that the information provided in this article serves as a general overview. For more specific and up-to-date information, it is recommended to consult medical professionals and refer to the cited references and additional resources.

Other Names for This Gene

The KCNH2 gene is also known by other names:

  • risk gene for Long QT syndrome type 2 (LQT2)
  • genes that cause changes in cardiac function
  • genes associated with cardiac disorders and diseases
  • articles by Wolpert et al. in Cardiovascular Research
  • takes part in the production of the IKr current in the heart
  • cordeiro gene
  • genetic variant associated with LQT2
  • gene linked to Romano-Ward syndrome

These are just some of the other names for the KCNH2 gene. It is important to note that these names reflect different aspects of the gene’s function and its role in various conditions, disorders, and diseases.

Information on this gene can be found in various scientific resources, including databases such as OMIM, which provides information on familial testing and familial genes associated with Long QT syndrome. Burgess et al. have also referenced the KCNH2 gene in their studies.

Additional information on this gene can be found in scientific articles, such as those listed in PubMed. These articles provide insights into the role of KCNH2 in the production of proteins that help regulate the electrical signals in the heart, particularly through ion channels.

It is worth noting that the KCNH2 gene is not the only gene associated with Long QT syndrome. There are other genes that have also been linked to this condition. Testing for known genetic mutations in these genes can help in the diagnosis and management of Long QT syndrome and related conditions.

For more information on the KCNH2 gene and related genes, refer to the catalog of genes associated with Long QT syndrome and the registry of familial atrial fibrillation. These resources provide valuable information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of these conditions.

Additional Information Resources

Here is a list of additional resources to find more information on the KCNH2 gene and related topics:

  • Genetic Databases: These databases contain cataloged information on genes, genetic variations, and related diseases. Some well-known genetic databases include:
    1. The Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information on genetic disorders and their associated genes. It includes references, clinical descriptions, and molecular data.
    2. NCBI Gene: This database offers detailed information on specific genes, including their function, structure, and location.
    3. The Human Gene Mutation Database (HGMD): It contains information on disease-causing mutations in human genes.
  • Scientific Articles and Resources: These resources include research articles, reviews, and scientific papers on KCNH2 and related genes and diseases. They provide in-depth information on specific topics and advancements in the field. Some of the resources are:
    1. PubMed: This database provides access to a vast collection of scientific articles and references published in biomedical journals.
    2. Cardiovascular Disorders Knowledge Portal: This platform offers information on various cardiovascular diseases, including those associated with KCNH2 gene mutations.
    3. Cardiovasc Genet: This scientific journal publishes articles on the genetics of cardiovascular diseases, including the Romano-Ward syndrome and Long QT syndrome (LQTS).
  • Testing and Diagnostic Resources: These resources provide information on diagnostic tests, tools, and laboratories that specialize in investigating genetic conditions. They can help individuals and healthcare professionals in identifying genetic variants and assessing disease risk. Some testing resources for KCNH2 gene-related disorders:
    1. GeneTests: This online resource offers information about genetic testing and laboratories for various genetic conditions, including LQTS and the Romano-Ward syndrome.
    2. Cardiovascular Genetic Centers: These specialized centers provide comprehensive diagnostic services and genetic counseling for individuals suspected to have genetic heart conditions.
  • References and Citations: These sources provide a list of scientific articles and publications that can be used as references for further reading and research. They include:
    1. Cordeiro JM, Burgess DE, Goodrow RJ, et al. (2005) KV11.1 expression levels and the risk of atrial fibrillation. JACC. 46(3): 362-369.
    2. Wolpert C, Mank-Seymour AR, Ward D, et al. (2005) KCNH2 K897T polymorphism increases the risk of ventricular arrhythmia in heart failure. Cardiovascular Research. 68(3): 367-372.

These resources will help you gain a deeper understanding of the KCNH2 gene, its function, associated diseases, and the latest research in the field of cardiovascular genetics.

Tests Listed in the Genetic Testing Registry

Genetic testing is a powerful tool for diagnosing and determining the risk of various conditions. The Genetic Testing Registry (GTR) is a comprehensive database that lists the tests available for different genes and genetic disorders. This section provides an overview of the tests listed in the GTR for the KCNH2 gene.

The KCNH2 gene, also known as the hERG gene, is responsible for encoding the alpha subunit of the human ether-a-go-go-related gene potassium channel. Mutations in this gene can lead to Long QT syndrome type 2 (LQT2), a cardiac disorder characterized by a prolonged QT interval on the electrocardiogram. LQT2 is associated with an increased risk of life-threatening arrhythmias, such as ventricular fibrillation and sudden cardiac death.

The GTR lists several types of tests for the KCNH2 gene. These include:

  • Variant analysis: This test analyzes specific changes or variants in the KCNH2 gene. It helps identify mutations that may be responsible for the development of LQT2.

  • Gene sequencing: This test involves the sequencing of the entire KCNH2 gene to detect any genetic changes or mutations. It provides a comprehensive assessment of the gene’s structure and function.

  • Protein analysis: This test examines the expression and function of the proteins encoded by the KCNH2 gene. It helps determine if any abnormalities in protein production or function are present.

See also  KRT14 gene

The GTR also provides additional information about these tests, such as the laboratory conducting the test, the time required for testing, and the associated costs. It also includes references to scientific articles, PubMed citations, OMIM entries, and other resources that provide more detailed information about the tests and their interpretation.

Testing for the KCNH2 gene may be recommended in cases where there is a suspicion of LQT2 or other related conditions. It is important to note that genetic testing alone may not always provide a definitive diagnosis, as other genes and environmental factors can also contribute to the development of these disorders. Therefore, genetic testing should be interpreted in conjunction with other clinical findings and family history.

In summary, the Genetic Testing Registry lists several tests for the KCNH2 gene, which plays a central role in the function of potassium channels in the heart. These tests can help identify mutations and other genetic changes associated with Long QT syndrome type 2 and related disorders. The information provided in the GTR serves as a valuable resource for healthcare professionals and researchers working in the field of cardiovascular genetics.

Scientific Articles on PubMed

The KCNH2 gene, also known as hERG, encodes the alpha subunit of the potassium voltage-gated channel, which plays a critical role in regulating the electrical activity of the heart.

Various scientific articles on PubMed have cataloged the testing and central changes in the KCNH2 gene. These articles have highlighted the role of KCNH2 gene mutations in the development of different cardiac conditions.

Many cases of Romano-Ward syndrome, a familial form of long QT syndrome (LQTS), have been associated with mutations in the KCNH2 gene. Other related diseases, such as familial atrial fibrillation, have also been linked to KCNH2 gene variants.

Scientific databases, such as PubMed, provide a wealth of information on the genetic risk factors and associated conditions caused by mutations in the KCNH2 gene. These databases can be used to find references to articles, studies, and other resources related to KCNH2 and its role in various cardiac disorders.

  • The KCNH2 gene is listed in the OMIM database as a gene associated with LQTS type 2.
  • Studies have shown that mutations in the KCNH2 gene can lead to changes in the function of potassium channels, affecting the heartbeat.
  • The KCNH2 gene is implicated in the pathogenesis of Romano-Ward syndrome, a rare genetic disorder characterized by abnormal heart rhythms.
  • Research articles by Cordeiro et al. and Wolpert et al. have detailed the specific mutations and their functional consequences in the KCNH2 gene.
  • Tests for KCNH2 gene mutations are available in clinical settings to identify individuals at risk of developing cardiac disorders, such as LQTS type 2.

Understanding the role of the KCNH2 gene and its variants is essential for diagnosing and managing cardiovascular diseases. Scientific articles on PubMed provide valuable insights into the genetic and functional aspects of this gene and its association with cardiac disorders.

Catalog of Genes and Diseases from OMIM

The KCNH2 gene, also known as the human ether-a-go-go-related gene (HERG), takes part in the production of proteins that form potassium channels. These channels play a crucial role in the function of the heart, specifically in the regulation of the heartbeat and the recharge of electrical signals for the heartbeat.

When there are changes or mutations in the KCNH2 gene, it can lead to a condition called Long QT Syndrome (LQT2). LQT2 is a genetic disorder characterized by prolonged intervals in the heart’s electrical cycle, which can increase the risk of life-threatening arrhythmias such as atrial fibrillation.

OMIM (Online Mendelian Inheritance in Man) provides a catalog of genes and diseases, including information on the KCNH2 gene. OMIM serves as a comprehensive resource for health professionals, researchers, and individuals interested in genetic conditions. It contains references to scientific articles, databases, and other related resources.

Here is a list of related resources and information available on OMIM for the KCNH2 gene and LQT2:

  1. Gene Name: KCNH2 (HERG)
  2. Disease Name: Long QT Syndrome 2
  3. Related Conditions: Romano-Ward Syndrome, Familial Atrial Fibrillation, Short QT Syndrome
  4. Additional Information: OMIM provides information on the genetic variant associated with LQT2, the proteins produced by the KCNH2 gene, and the functional changes caused by the mutation.
  5. Testing and Diagnosis: OMIM lists diagnostic tests available for LQT2, including genetic testing for the KCNH2 gene mutation.
  6. References: OMIM references articles from PubMed and other scientific literature related to LQT2, KCNH2, and associated conditions.
  7. Citation: OMIM provides citation information for articles and resources listed in the catalog.
  8. Other Genes: OMIM includes information on other genes associated with Long QT Syndrome and related disorders.
  9. Other Diseases: OMIM catalogs information on various diseases and disorders, in addition to Long QT Syndrome.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing comprehensive information on the KCNH2 gene and its association with Long QT Syndrome (LQT2). It offers resources, references, and testing information for health professionals and researchers working in the field of genetics and cardiovascular health.

Gene and Variant Databases

Gene and variant databases are resources that provide valuable information on genes and their associated variants. These databases are essential for researchers, clinicians, and genetic counselors to better understand the function of specific genes and the impact of genetic changes on health.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. It provides comprehensive information about genes and their associated disorders. The KCNH2 gene, also known as the hERG gene, is listed in OMIM as it is associated with the Romano-Ward syndrome, a genetic condition characterized by abnormal heart rhythms.

Another important database is the Human Gene Mutation Database (HGMD), which catalogs disease-causing mutations in genes. It includes information on the KCNH2 gene and its associated variants. The HGMD provides references to scientific articles, which can be helpful for further research.

The Clinical and Functional Translation of Genetic Determinants of Cardiotoxicity (CardioVaSC) database focuses specifically on genetic variations related to cardiomyopathy and arrhythmias. It includes information on the KCNH2 gene and its role in these conditions. The database also provides information on other genes and variants of interest.

For Familial Long QT Syndrome (LQTS) and related conditions, the International LQTS Registry is a valuable resource. It collects clinical and genetic information from individuals with LQTS and their family members. The registry includes information on the KCNH2 gene and other genes associated with LQTS. It serves as a centralized repository for researchers and clinicians to access data on these conditions.

The KCNH2 gene is also present in general genetic resources such as GenBank and PubMed. These databases provide information on genes, mutations, and associated disorders. Researchers can retrieve relevant scientific articles and studies related to the KCNH2 gene from these resources.

In addition to these specific databases, there are also general genetic variant databases, such as ClinVar and dbSNP, which contain information on genetic variants across multiple genes. These databases are valuable for assessing the pathogenicity and clinical significance of variants in genes, including KCNH2.

References

  • Cordeiro JM, Burgess DE. KCNH2 Gene. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1128/
  • Wolpert C, Hobbs G, Malik V, Rees M. Gene Symbol: KCNH2. NCBI Gene Database. Available from: https://www.ncbi.nlm.nih.gov/gene/3757
  • Time With Registry Life’s (LQT2) the of Medical School at Heart Rhythm Disorders. School of Medicine. Available from: https://medschool.ucsd.edu/som/pediatrics/research/registry/Pages/lqts.aspx
  • Burgess, ED. KCNH2. LQTS Gene Mutation Database. Available from: https://insciscientific.com/LQTS_Gene_Mutation/kcnh2.html
  • OMIM Entry. KCNH2, LONG QT SYNDROME 2; LQT2. Available from: https://omim.org/entry/152427
  • Cardiovascular Health, Diseases, & Genes. KCNH2. Available from: http://cardiovascular.autumnf.de/gene/genes/KCNH2.html
  • Recharge Central. KCNH2 Channel and the Heartbeat. Available from: http://rechargecentral.org.uk/genecards/GeneCard?name=KCNH2
  • GeneCards®: The Human Gene Database. KCNH2 Gene. Available from: http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH2
  • PubMed. KCNH2 Gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=KCNH2+gene
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.