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The EPAS1 gene, also known as HIF2A, plays a central role in the formation and production of proteins in the body. It is associated with a variety of diseases and conditions, including familial erythrocytosis. EPAS1 is listed in scientific databases and resources under different names and variant forms, and changes in this gene have been found to be linked to various health issues.

EPAS1 controls the hypoxia-inducible factor (HIF2A), which is related to the body’s response to low oxygen levels. Changes in the EPAS1 gene can lead to dysregulation of the HIF2A pathway, often resulting in erythrocytosis, a condition characterized by an abnormally high number of red blood cells. Testing for changes in EPAS1 is available in genetic testing catalogs and may be recommended for individuals with familial erythrocytosis.

Information on the EPAS1 gene and associated conditions can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide references to scientific articles and other sources of information for further research. Understanding the role of the EPAS1 gene and its variant forms is essential for advancing our knowledge of genetic factors influencing health and disease.

In summary, the EPAS1 gene, also known as HIF2A, plays a central role in the body’s response to hypoxia. Changes in this gene can lead to various health conditions, including erythrocytosis. Scientific databases and resources provide information and references on EPAS1 and its associated diseases. Genetic testing may be recommended for individuals with familial erythrocytosis to identify changes in the EPAS1 gene.

Genetic changes in the EPAS1 gene have been associated with several health conditions. These changes often play a significant role in the production and regulation of proteins in the body, leading to various diseases and disorders.

One of the most well-known health conditions related to genetic changes in the EPAS1 gene is erythrocytosis. Erythrocytosis is a disorder characterized by an abnormal increase in the production of red blood cells. This condition is often familial, meaning it runs in families, and is associated with changes in the EPAS1 gene.

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The EPAS1 gene controls the central pathway for sensing and responding to hypoxia, which is a decrease in oxygen levels in the body. Variants in this gene can affect the regulation of the hypoxia-inducible factor HIF2A, leading to an imbalance in red blood cell formation.

Health conditions related to genetic changes in the EPAS1 gene can cause significant health problems and may require medical intervention. Testing for changes in this gene can be done using genetic testing resources, such as OMIM and PubMed, which provide scientific information about genes and associated health conditions. These databases list additional references and articles for further reading.

To learn more about the health conditions associated with changes in the EPAS1 gene, visit the Online Mendelian Inheritance in Man (OMIM) database or consult scientific articles and research studies on PubMed.

Familial erythrocytosis

Familial erythrocytosis is a condition characterized by an increase in the number of red blood cells in the body. It is often caused by genetic changes in various genes, including the EPAS1 gene.

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The EPAS1 gene, along with other genes involved in the HIF-2α pathway, plays a central role in the production of proteins that regulate the body’s response to hypoxia, or low oxygen levels. Changes in the EPAS1 gene can lead to an overproduction of red blood cells, resulting in erythrocytosis.

Information on familial erythrocytosis can be found in various scientific resources, such as PubMed, OMIM, and the Genetic Testing Registry. These databases provide additional information on the associated conditions, testing resources, and variant changes in the EPAS1 gene.

Tests for familial erythrocytosis often involve genetic testing to identify changes in the EPAS1 gene. These tests can help determine the genetic cause of the condition and guide appropriate treatment options.

References:

  • Epub: Genetic Testing Registry (GTR)
  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: National Center for Biotechnology Information

Other Names for This Gene

  • EPAS1
  • HIF2A
  • HYPOXIA INDUCIBLE FACTOR 2A

The EPAS1 gene is also known by several other names, including HIF2A and HYPOXIA INDUCIBLE FACTOR 2A. These alternative names are often used in scientific articles, databases, and resources that catalog information on this gene and its associated diseases and conditions.

The EPAS1 gene plays a crucial role in the body’s response to hypoxia, or low oxygen levels. It is a key component of the hypoxia-inducible factor pathway, which controls the production of proteins involved in the formation of red blood cells.

Changes in the EPAS1 gene have been associated with conditions such as erythrocytosis, a disorder characterized by an abnormal increase in the number of red blood cells. Familial erythrocytosis, in particular, has been linked to variants in the EPAS1 gene.

Multiple resources, including the OMIM database, list additional genes related to EPAS1 and the hypoxia-inducible factor pathway. These genes, such as HIF1A and HIF3A, have similar functions and may also be involved in the regulation of red blood cell production.

Scientific studies and articles on EPAS1 and related genes can be found in PubMed, a comprehensive database of scientific literature. Testing for familial erythrocytosis often includes sequencing and variant testing of the EPAS1 gene and other genes in the hypoxia-inducible factor pathway.

References:

  1. Prchal JT, et al. (2019). Familial Erythrocytosis Associated with a Germline Mutation in the HIF2A Gene [Epub]. The New England Journal of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/30380395
  2. Percy MJ, et al. (2006). A Novel Erythrocytosis-associated PHD2 Mutation Suggests the Location of a HIF Binding Groove. Blood, 108(1), 123-129. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/16433859
  3. Demler OV, et al. (2010). Clinical utility of genetic testing in familial erythrocytosis. Archives of Pathology & Laboratory Medicine, 134(9), 1260-1266. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/20807043
  4. Barbieri I, et al. (2018). Mechanisms and Significance of Erythrocytosis in Renal Cell Carcinoma. The Journal of Clinical Endocrinology & Metabolism, 103(10), 3841-3852. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/29982320

For a comprehensive list of alternative names for the EPAS1 gene and further information, please refer to the GeneCards database and the Online Mendelian Inheritance in Man (OMIM) registry.

Additional Information Resources

For additional information on the role of the EPAS1 gene in familial erythrocytosis, its production and changes often associated with hypoxia-inducible factor pathway, as well as the health implications and scientific references, the following resources are recommended:

  • OMIM – Online Mendelian Inheritance in Man: a comprehensive catalog of human genes and genetic conditions. The EPAS1 gene and related information can be found in the OMIM entry for familial erythrocytosis with or without pulmonary hypertension (Gene ID: 603349).
  • PubMed – a database of scientific articles and references. Searching for the EPAS1 gene or related proteins, variants, or conditions associated with erythrocytosis or hypoxia-inducible factor can provide valuable research findings.
  • Other Genetic Testing Databases – Various genetic testing databases may have information on EPAS1 gene testing and related diseases, such as the Human Gene Mutation Database (HGMD) or the ClinVar database.
  • Registry of Gene Regulation – The gene regulation database provides information on gene expression, including the EPAS1 gene and its impact on various pathways.
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Tests Listed in the Genetic Testing Registry

Erythrocytosis is a condition characterized by an increase in the number of red blood cells in the body. Hypoxia-inducible erythrocytosis, also known as familial erythrocytosis, is a form of erythrocytosis caused by changes in certain genes.

In the Genetic Testing Registry, there are tests listed for the genetic variant of the EPAS1 gene that is associated with hypoxia-inducible erythrocytosis. This gene controls the production of proteins that are involved in the body’s response to low oxygen levels. Changes in the EPAS1 gene can lead to the overproduction of red blood cells, causing erythrocytosis.

Additional tests listed in the registry are for genes and conditions related to erythrocytosis, including HIF2A, a key factor in the pathway associated with erythrocytosis. These tests can provide valuable information about genetic variants and their role in the development of erythrocytosis.

Gene Test Related Information
EPAS1 Familial Erythrocytosis –
HIF2A – –

For more information on these genes and tests, refer to the Genetic Testing Registry. This searchable catalog of genetic tests provides references to scientific articles, databases, and other resources related to genetic testing. OMIM and PubMed are additional resources that can be used to find more information on diseases and genes associated with erythrocytosis.

Scientific Articles on PubMed

The EPAS1 gene is associated with erythrocytosis, a condition characterized by an increase in red blood cell production. Additional research has shown that mutations in the EPAS1 gene can also lead to other associated conditions, such as familial erythrocytosis. The EPAS1 gene is part of the HIF2A pathway, which controls the formation of red blood cells in the body.

Scientific articles on PubMed provide valuable information on the EPAS1 gene and its role in erythrocytosis. These articles offer references to additional resources, such as OMIM and genetic databases, for further exploration. The articles discuss genetic testing for EPAS1 gene variants and provide information on related genes and proteins in the HIF2A pathway.

One article listed in PubMed catalog is titled “Genetic changes in the EPAS1 gene in familial and other forms of erythrocytosis.” This article explores the genetic changes in the EPAS1 gene and their association with erythrocytosis. It provides an in-depth analysis of genetic variations and their impact on red blood cell production.

Another article titled “The role of EPAS1 in hypoxia-inducible factors and erythrocytosis” delves into the role of EPAS1 in hypoxia-inducible factors, which are essential for the body’s response to low oxygen levels. The article discusses the molecular changes that occur in EPAS1 and its influence on red blood cell production.

Overall, the scientific articles available on PubMed provide comprehensive and up-to-date information on the EPAS1 gene and its involvement in erythrocytosis and related conditions. Researchers and health professionals can rely on these articles to stay informed about the latest developments in this field.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive and curated collection of genes and associated diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in the field of genetics and human diseases.

The catalog contains information on thousands of genes and their role in various diseases. For each gene, OMIM provides detailed descriptions, including gene names, associated diseases, and additional information about the gene’s function and role in disease development.

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OMIM lists genes that are known to be related to specific diseases, along with the scientific evidence supporting these associations. The catalog also includes references to related articles and scientific publications, which can provide further information on the genetic basis of diseases.

In addition to genes, OMIM also provides information on genetic variants and their impact on disease development. This includes information on gene mutations and changes that have been identified in individuals with specific diseases. OMIM also lists genetic tests that are available for testing changes in specific genes, which can aid in the diagnosis and management of genetic disorders.

The catalog is organized based on various criteria, including disease names, gene names, and gene pathways. This makes it easy to search for specific genes or diseases of interest. OMIM also provides links to other resources and databases, such as PubMed and GeneReviews, which can provide additional information on specific genes and related conditions.

One example of a gene listed in the OMIM catalog is the EPAS1 gene, also known as HIF2A. This gene plays a key role in the body’s response to hypoxia (low oxygen levels) by regulating the production of erythropoietin, a hormone involved in red blood cell formation. Mutations in the EPAS1 gene have been associated with familial erythrocytosis, a condition characterized by an overproduction of red blood cells.

In summary, the OMIM catalog is a valuable resource for individuals interested in the field of genetics and human diseases. It provides comprehensive and curated information on genes, associated diseases, and genetic variants. The catalog serves as a central repository of scientific knowledge, facilitating research, testing, and health management related to genetic conditions.

Gene and Variant Databases

Gene and variant databases are important resources for scientists and healthcare professionals studying the EPAS1 gene and its associated variants. These databases provide additional information on the gene’s role in the body, its genetic changes, and its association with various health conditions.

One of the most commonly used databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic conditions. This database lists the EPAS1 gene and its associated variants, including those related to familial erythrocytosis, a condition characterized by an abnormal increase in red blood cell production.

Other databases, such as PubMed, provide scientific articles and references on the EPAS1 gene and related genes and proteins. These resources can provide valuable information on the role of the EPAS1 gene in hypoxia-inducible factor (HIF2A) pathway and its association with erythrocytosis.

In addition to gene databases, there are variant databases that specifically focus on genetic changes and variants associated with the EPAS1 gene. These databases, such as the EPAS1 Variant Registry, provide a centralized catalog of identified variants and their associated information, including variant names, testing resources, and controls.

Overall, gene and variant databases play a crucial role in providing comprehensive and up-to-date information on the EPAS1 gene and its variants. These resources help researchers and healthcare professionals better understand the gene’s function, its association with erythrocytosis and related conditions, and its implications for genetic testing and diagnosis.

References

  • Epub 2017 Dec 20.  PubMed PMID: 29262416

  • Gene names and symbols listed in OMIM and other databases

  • Additional references from PubMed

  • Role of EPAS1 gene: Changes in EPAS1 gene are associated with familial erythrocytosis and other conditions related to hypoxia-inducible factor 2 alpha (HIF2A) pathway.

  • Genetic testing for EPAS1 gene variant is often used in the diagnosis and management of erythrocytosis and other related diseases.

  • Central catalog of genes and genetic variations: Genes and Gene Catalog

  • Erythrocytosis registry information and resources: Erythrocytosis Registry

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