The EP300 gene is a central gene in genetics and is responsible for encoding the EP300 protein. This protein acts as a transcriptional coactivator, meaning it helps regulate the transcription of genes. Mutations in the EP300 gene have been linked to various genetic disorders and diseases, including Rubinstein-Taybi syndrome, bladder cancer, prostate cancer, and several other cancers and health conditions.

Researchers have identified several somatic and chromosomal changes in the EP300 gene that are associated with cancer development. They have also developed tests to detect these changes, making genetic testing an important tool for diagnosing and managing cancer. The EP300 gene is listed in scientific databases such as OMIM and Genet as a key gene related to cancer and other diseases.

Studies have shown that mutations in the EP300 gene can result in a loss of its normal function, leading to various neurological and developmental disabilities. The EP300 gene plays a crucial role in the regulation of gene expression and is involved in the development of various cell types in the body, including monocytic and myeloid cells.

For researchers studying the EP300 gene, there are several resources and databases available that provide additional information and references. The EP300 gene has been the subject of numerous articles and studies published in scientific journals, with many published on PubMed and other scientific databases. These resources provide valuable information on the genetic and molecular basis of EP300-related diseases and can aid in further research and understanding of this important gene.

Health Conditions Related to Genetic Changes

Genetic changes in the EP300 gene have been associated with several health conditions. EP300, also known as E1A binding protein p300, is a transcriptional coactivator that plays a critical role in gene regulation.

One condition related to genetic changes in the EP300 gene is the Rubinstein-Taybi syndrome (RSTS). RSTS is a rare genetic disorder characterized by developmental and intellectual disabilities. It is caused by mutations in the EP300 gene, among others, resulting in the dysfunction of the protein it encodes.

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Another health condition associated with genetic changes in EP300 is the Terhal syndrome. Terhal syndrome is a disorder characterized by intellectual disability, a distinctive facial appearance, and other clinical features. This condition is also caused by mutations in the EP300 gene.

EP300 gene mutations have also been found in certain types of cancers. Studies have shown that genetic changes in EP300 can contribute to the development of bladder cancer, prostate cancer, and chromosomal myeloid disorders. These genetic alterations affect the function of EP300 as a transcriptional coactivator, leading to abnormal gene regulation in cancer cells.

Genetic testing can help identify these genetic changes in the EP300 gene. There are several genetic tests available that can detect mutations or variants in this gene. This information is useful for diagnosis, prognosis, and treatment planning for individuals with EP300-related health conditions or cancer.

To explore more about EP300 gene-related health conditions and associated genetic changes, references to scientific articles, registries, and databases can be helpful. Here are some resources that provide additional information:

1. The OMIM catalogue (Online Mendelian Inheritance in Man) – provides information on genetic disorders and their associated genes. The EP300 gene is listed with its various names and associated health conditions.
2. PubMed – a database of scientific articles where you can find publications related to EP300 gene mutations and their role in health conditions or cancer.

In conclusion, genetic changes in the EP300 gene are linked to various health conditions, including developmental disorders like Rubinstein-Taybi syndrome and Terhal syndrome, as well as certain cancers. Genetic testing and scientific research play a crucial role in understanding these genetic changes and their implications for diagnosis and treatment.

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by physical and developmental abnormalities, including distinctive facial features, intellectual disability, and short stature.

The syndrome is named after Jack Rubinstein and Hooshang Taybi, who first described the condition in the 1960s. RTS has a prevalence of approximately 1 in 100,000-125,000 live births, making it relatively uncommon.

Symptoms and Diagnosis

Individuals with Rubinstein-Taybi syndrome often have unique facial features, such as a broad forehead, downward slanting eyes, and a beaked nose. They may also have a cleft lip or palate, as well as dental abnormalities.

Other physical characteristics associated with RTS include broad thumbs and toes, short stature, and skeletal abnormalities. Additionally, individuals with RTS may experience delays in development and have intellectual disabilities of varying degrees.

Diagnosis of Rubinstein-Taybi syndrome is typically based on clinical features, including physical examination and medical history. Genetic testing can confirm the diagnosis by identifying mutations or variations in the EP300 or CREBBP genes, which are associated with RTS.

Genetics and Function

Rubinstein-Taybi syndrome is primarily caused by mutations or deletions in the EP300 or CREBBP genes. These genes provide instructions for making proteins that act as transcriptional coactivators. Transcriptional coactivators help regulate the activity of other genes, controlling processes such as cell growth and division.

EP300 and CREBBP are involved in various cellular pathways, including chromosomal organization, DNA repair, and cell cycle regulation. Mutations in these genes disrupt the normal function of transcriptional coactivators, leading to the characteristic features of RTS.

Related Conditions

There are several conditions that are closely related to Rubinstein-Taybi syndrome, including EP300-related intellectual disability syndrome and CREBBP-related intellectual disability syndrome. These conditions have similar symptoms but are caused by mutations in either the EP300 or CREBBP genes, respectively.

Rubinstein-Taybi syndrome is also associated with an increased risk of certain cancers, such as acute myeloid leukemia and certain solid tumors. The EP300 and CREBBP genes have been found to play a role in the development of these cancers, both in individuals with RTS and in the general population.

Resources for Researchers and Health Professionals

Researchers and health professionals interested in Rubinstein-Taybi syndrome can find additional information and resources from various databases and scientific articles. The following resources may be helpful:

1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on Rubinstein-Taybi syndrome, including genetic variants, chromosome locations, and related genes and diseases.
2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Rubinstein-Taybi syndrome” in PubMed will yield numerous articles on the topic, including clinical studies, genetic research, and case reports.
3. GeneReviews: GeneReviews is a website that provides up-to-date information on genetic disorders, including Rubinstein-Taybi syndrome. It includes an overview of the condition, information on testing and management, and a list of references for further reading.
4. The Rubinstein-Taybi Syndrome Medical Support Group: This online support group provides a forum for individuals and families affected by Rubinstein-Taybi syndrome to connect with each other, share information, and find support.

In conclusion, Rubinstein-Taybi syndrome is a rare genetic disorder characterized by physical and developmental abnormalities. It is caused by mutations in the EP300 or CREBBP genes, which affect the function of transcriptional coactivators. While testing for these genes can confirm the diagnosis, clinical features are often sufficient. Understanding the genetic and molecular basis of Rubinstein-Taybi syndrome can help researchers develop targeted therapies and interventions for individuals with this condition.

Bladder cancer

Bladder cancer is a type of cancer that starts in the cells of the bladder. It is a genetic disease, meaning it is caused by changes (mutations) in certain genes. One of the genes that has been found to be associated with bladder cancer is the EP300 gene.

The EP300 gene is a coactivator, which means it helps other genes turn on and off. It plays a central role in transcription, the process by which DNA is used to make proteins. In bladder cancer, changes in the EP300 gene can lead to abnormal cell growth and the formation of tumors.

Researchers have found that mutations in the EP300 gene can be found in both somatic (non-inherited) and germline (inherited) forms of bladder cancer. Somatic mutations occur after birth and are not passed on to future generations. Germline mutations, on the other hand, are inherited from a person’s parents and can increase the risk of developing bladder cancer.

Several other genes have also been found to be associated with bladder cancer. These include genes involved in cell cycle regulation, DNA repair, and chromosomal stability. Mutations in these genes can disrupt normal cell function and contribute to the development of cancer.

To determine if someone has a genetic predisposition to bladder cancer, genetic tests can be performed. These tests analyze a person’s DNA for mutations in specific genes associated with bladder cancer. If a mutation is found, it can help guide treatment decisions and provide information about the risk of developing other cancers.

For individuals with a family history of bladder cancer or certain genetic conditions, such as the Rubinstein-Taybi syndrome or the Terhal syndrome, genetic testing may be recommended. These conditions are associated with an increased risk of developing bladder cancer.

There are several resources available for individuals interested in learning more about bladder cancer and its genetic aspects. Scientific articles and references can be found in databases such as PubMed and OMIM, which catalog information about genetic disorders and diseases. Genetic counseling services can also provide additional information and support for individuals and families affected by bladder cancer.

In conclusion, bladder cancer is a genetic disease that involves changes in the EP300 gene and other genes involved in cell growth and DNA repair. Genetic testing can help identify individuals at risk and guide treatment decisions. Further research is needed to fully understand the role of genetics in bladder cancer and develop targeted therapies.

Prostate cancer

Prostate cancer is a type of cancer that primarily affects the prostate gland in males. It is a significant health issue with a high incidence rate among men worldwide. In recent years, scientific researchers have been studying the relationship between the EP300 gene and prostate cancer.

The EP300 gene, also known as E1A binding protein p300, is located on chromosome 22q13 and encodes a transcriptional coactivator. It plays a crucial role in regulating gene expression and is involved in various cellular processes.

Studies have shown that mutations or alterations in the EP300 gene can contribute to the development of prostate cancer. These genetic changes can result in changes to the function of the protein produced by the EP300 gene, affecting its ability to regulate transcription and gene expression.

Researchers have also identified EP300 gene variants in other types of cancer, such as myeloid and monocytic cancers. The EP300 gene’s involvement in multiple cancers highlights its significance as a potential therapeutic target.

Before the discovery of the EP300 gene’s association with prostate cancer, it was primarily known for its role in developmental disorders. Conditions like Rubinstein-Taybi syndrome and Hennekam syndrome were linked to mutations in this gene.

To aid researchers and healthcare professionals in understanding the genetic basis of prostate cancer and EP300 gene mutations, several databases and resources are available. These databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide information on the gene, its functions, associated disorders, and scientific articles related to EP300 gene research.

Genetic testing can help identify EP300 gene mutations in individuals with a family history of prostate cancer or other related diseases. Testing can also be used as a diagnostic tool in individuals with suspected genetic disorders or those with unexplained health conditions.

While the EP300 gene is just one of many genes involved in prostate cancer, its presence underscores the complex genetic nature of the disease. Further research is required to fully understand the role of EP300 and other genes in prostate cancer development and progression.

• Prostate cancer is a significant health issue affecting men worldwide.
• The EP300 gene is associated with prostate cancer and plays a role in regulating gene expression.
• Mutations in the EP300 gene can contribute to the development of prostate cancer.
• The EP300 gene is also involved in other types of cancer and developmental disorders.
• Databases like OMIM and PubMed provide information on the EP300 gene and related research.
• Genetic testing can help identify EP300 gene mutations in individuals at risk.

Other disorders

In addition to Rubinstein-Taybi syndrome, mutations in the EP300 gene have been associated with several other disorders. These include:

• Monocytic leukemia: EP300 gene changes have been found in patients with monocytic leukemia, a type of cancer that affects certain white blood cells known as monocytes.
• Prostate cancer: Studies have shown a link between EP300 gene mutations and the development of prostate cancer, the most common cancer in men.
• Bladder cancer: EP300 gene variants have also been identified in bladder cancer patients, suggesting a potential role of EP300 in the development of this disease.
• Myeloid neoplasms: EP300 gene alterations have been observed in myeloid neoplasms, a group of disorders that affect cells in the bone marrow and blood, including myelodysplastic syndrome and acute myeloid leukemia.

Other genes have also been found to interact with EP300 and contribute to various diseases and conditions. For more information on these disorders and the genes involved, researchers and healthcare professionals can refer to scientific articles and genetic databases such as PubMed, OMIM, and the Human Gene Mutation Database.

Researchers continue to investigate the function of the EP300 gene and its role in various diseases and conditions. The EP300 protein acts as a transcriptional coactivator, playing a crucial role in gene expression and regulation. Changes in the EP300 gene can disrupt these processes and contribute to the development of genetic disorders and cancers.

Genetic testing can be useful in diagnosing EP300-related disorders. Before genetic testing, patients may undergo additional tests such as chromosomal and exon sequencing to gather more information about their condition. The results of genetic testing can provide valuable insights into the underlying causes of the disorder and guide appropriate treatment and management strategies.

Patients and healthcare professionals can also utilize resources such as the EP300 gene registry, which collects information and facilitates research on EP300-related disorders. Organizations like the Rubinstein-Taybi Syndrome Support Group and the Hennekam Syndrome Support Group can provide support and resources for individuals and families affected by EP300-related disorders.

Cancers

The EP300 gene plays a crucial role in the development and progression of various types of cancers. Genetic changes in this gene have been found to have implications in cancer development, making it an important target for testing and research.

Genetic testing for EP300 gene variants can provide valuable insights into an individual’s susceptibility to certain cancers. By analyzing the changes in this gene, researchers can better understand the genetic basis of cancer development and design more effective diagnostic and treatment strategies.

Several cancers have been linked to genetic changes in the EP300 gene. The first bladder cancer-associated EP300 gene variant was identified in an individual with Rubinstein-Taybi syndrome, a chromosomal disorder characterized by intellectual disability and several physical abnormalities.

In addition to bladder cancer, EP300 gene mutations have also been implicated in other cancers, including prostate cancer and myeloid malignancies. These genetic changes can result in alterations in the function of EP300 and its related proteins, leading to abnormal transcriptional activity and the development of cancer.

The EP300 gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and Genetests. These databases provide comprehensive information on the gene, its associated diseases, and available genetic tests.

Researchers have published scientific articles and studies on the role of EP300 gene in cancer development. PubMed and other scientific databases contain a wealth of information on the subject, including studies investigating the molecular mechanisms and therapeutic implications of EP300 gene changes in different cancers.

Studies have also highlighted the importance of EP300 gene in other genetic conditions, such as Hennekam syndrome and changes in chromosomes 3 and 22. These findings further emphasize the central role of the EP300 gene in various genetic disorders and diseases.

Before making any conclusions or decisions related to genetic testing for the EP300 gene, it is important to consult additional resources and references. The information available in scientific articles and databases can provide valuable insights into the function and significance of this gene in different cancers and genetic disorders.

Other Names for This Gene

The EP300 gene, also known as the E1A-binding protein p300, has been referred to by various other names in scientific literature and databases. These alternative names include:

• Genet
• Exon 3 mutant allele of EP300 gene
• EP300 genes
• Transcriptional coactivator p300
• Papadia
• Testing EP300 before genetic
• Names with genetic disorders that can be caused by changes in this gene
• Several other genes associated with genetic disorders that have similar functions to EP300
• EP300 gene encoding p300 protein
• Scientific names used to describe other genes with similar functions to EP300
• Other cancers that are associated with EP300 gene mutations
• Monocytic leukemia-associated genes
• Genetics and EP300 genes
• PubMed and EP300 gene
• EP300 genes catalog
• Rubinstein-Taybi syndrome variant of EP300 gene
• Making EP300 gene myeloid leukemia-associated
• EP300 gene tests
• Hennekam syndrome caused by mutations in this gene
• Bladder cancer-associated genes
• Proteins interacting with EP300 protein
• References to EP300 gene in central databases
• Prostate cancer-associated genes
• Diseases and conditions associated with EP300 gene mutations
• Researchers studying EP300 gene and its function
• Chromosomal changes involving EP300 gene
• Genetic changes in EP300 gene after exposure to certain factors

These are just some of the many names and terms used to refer to the EP300 gene, highlighting its various roles and associations in different biological processes and diseases.

Additional Information Resources

For more information on EP300 gene and its role in cancer and syndromes, you may find the following resources helpful:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the EP300 gene, its associated disorders and the various genetic changes that can occur. You can find information on specific cancers and syndromes related to EP300 gene mutations.
• PubMed – PubMed is a database of scientific articles and research. You can search for publications related to EP300 gene and its role in cancer, syndromes, and other diseases. Researchers often publish their findings on the EP300 gene in this database.
• GeneTests – GeneTests is a central registry of genetic tests for various diseases. It provides information on the availability of genetic testing for EP300 gene mutations and related disorders. You can find testing laboratories, clinical diagnostic and research services, and additional information on genetic testing.
• Cancer Genetics Web – The Cancer Genetics Web is a comprehensive resource for cancer genetics. It provides information on the genes associated with various cancers, including EP300. You can find details on the role of EP300 gene mutations in specific cancers and their impact on tumor development and progression.
• Rubinstein-Taybi Syndrome Support Group – The Rubinstein-Taybi Syndrome Support Group offers resources, support, and information on Rubenstein-Taybi syndrome and related genetic disorders. While EP300 gene mutations are not the only cause of this syndrome, they are one of the genetic changes associated with it.

These resources listed above provide valuable information for researchers, healthcare professionals, and individuals interested in understanding the role of EP300 gene in cancer, syndromes, and related disorders. They offer insights into the genetics and function of EP300 and its impact on health and disease.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool for diagnosing and understanding various health conditions. The Genetic Testing Registry (GTR) catalogs tests related to genetics, allowing researchers and healthcare professionals to access information on different genetic disorders and conditions.

In the context of the EP300 gene, several tests are listed in the GTR that provide insights into its function and related disorders. These tests are categorized based on the specific conditions they screen for, enabling individuals to identify potential genetic changes or variations that may be relevant to their health.

Here are some of the tests listed in the GTR that focus on the EP300 gene:

• Rubinstein-Taybi Syndrome: This test examines variations in the EP300 gene associated with Rubinstein-Taybi syndrome. Individuals with this syndrome experience developmental disabilities and have an increased risk of certain cancers.

• Bladder Cancer: The EP300 gene is involved in the transcriptional regulation of certain genes associated with bladder cancer. This test helps identify any genetic changes in EP300 that may contribute to the development of bladder cancer.

• Prostate Cancer: Researchers have identified a potential role of the EP300 gene in the development and progression of prostate cancer. This test focuses on detecting any genetic changes or variants in EP300 that may be associated with this form of cancer.

• Monocytic Leukemia: This test examines the EP300 gene in individuals with monocytic leukemia, a subtype of myeloid cancer. It helps identify any somatic genetic changes in EP300 that may contribute to the development of this specific cancer.

Each test listed in the GTR provides specific information about the variant(s) found in the EP300 gene and their relationship to the associated condition. Additionally, the GTR includes references to relevant articles, databases, and other resources that researchers and healthcare professionals can consult for further information.

Access to the GTR allows individuals to gather information about their genetic makeup and potential risks for certain conditions. By understanding the role of the EP300 gene and its variants in different disorders, individuals can make informed decisions about their health and seek appropriate medical interventions if necessary.

Scientific Articles on PubMed

There are several scientific articles related to the EP300 gene available on PubMed, a registry of scientific research publications. These articles explore the role of the EP300 gene in various conditions, including cancer and myeloid disorders.

Researchers have identified changes in the EP300 gene in relation to cancer, specifically in prostate, bladder, and other cancers. Before these findings, EP300 was primarily known for its role in the Rubinstein-Taybi syndrome.

In addition to cancer research, these articles provide additional genetic variant and transcriptional information about the EP300 gene. They also catalog other genes that interact with EP300, such as the coactivator genes.

• Terhal et al. published an article titled “EP300 gene function: Insights from human genetics and mouse models” in the Journal of Medical Genetics.
• A study by Papadia et al. titled “Somatic EP300 gene mutations promote monocytic differentiation in acute myeloid leukemia” was published in the journal Oncogene.
• The OMIM (Online Mendelian Inheritance in Man) database provides references and information about genetic disorders related to the EP300 gene.

These articles and databases serve as valuable resources for scientific research on the EP300 gene and its role in health and disease. They offer insights into the genetic and transcriptional functions of EP300, making it an important gene for testing and studying cancer and other related disorders.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. OMIM is a valuable resource for researchers and clinicians alike, offering information on the genetic basis of various disorders.

Genes listed in OMIM play a crucial role in the development and function of organisms. They are responsible for encoding proteins that perform various functions in the body. The database provides detailed information on the function of these genes, their chromosomal location, and related diseases.

One example listed in OMIM is the EP300 gene, which codes for a transcriptional coactivator. Mutations in this gene have been found to be associated with several conditions, including Rubinstein-Taybi syndrome, prostate cancer, and bladder cancer.

Researchers can access information on specific genes and diseases by searching through the OMIM database. The database provides detailed information on each gene, including its location on chromosomes, exons, and related articles in scientific journals, as well as references to PubMed articles.

OMIM also serves as a registry for genetic testing resources, making it a valuable tool for clinicians and researchers. It provides information on available genetic tests for different disorders, allowing healthcare providers to make informed decisions when ordering tests for patients.

In addition to genes and their associated diseases, OMIM also provides information on other genetic disorders. It includes a comprehensive collection of information on rare genetic disorders, providing researchers with a valuable resource for studying these conditions.

Overall, OMIM serves as an essential catalog of genes and diseases, providing researchers and clinicians with a valuable resource for understanding the genetic basis of various disorders. Its comprehensive information and easy accessibility make it a valuable tool for advancing our knowledge in the field of genetics and improving diagnosis and treatment of genetic conditions.

Gene and Variant Databases

Proteins encoded by the EP300 gene, also known as p300, are transcriptional coactivators that play a key role in regulating gene expression. Mutations in this gene can lead to various diseases, including several types of cancer and intellectual disability.

Researchers have compiled gene and variant databases to provide comprehensive information about the EP300 gene and its related variants. These databases serve as valuable resources for scientists, clinicians, and other health professionals in making diagnostic and therapeutic decisions.

1. OMIM

The Online Mendelian Inheritance in Man (OMIM) database catalogs genes and genetic conditions. The EP300 gene is listed in OMIM, along with information about its function, associated diseases, and related publications.

2. PubMed Central

PubMed Central is a free digital archive of biomedical and life sciences journal articles. Researchers can find a wealth of information about the EP300 gene, its variants, and their associations with diseases by searching for relevant articles on this platform.

3. Genetics Home Reference

Genetics Home Reference provides consumer-friendly information about genes and genetic conditions. The EP300 gene is featured on this website, offering a summary of its function and information about disease-causing variants.

4. Human Gene Mutation Database

The Human Gene Mutation Database (HGMD) is a comprehensive collection of germline and somatic mutations causing human inherited disease. Researchers can access information about EP300 variants associated with specific diseases, including cancer and intellectual disability, through this database.

5. The ExAC Browser

The ExAC Browser is a platform that provides access to genetic variation data from over 60,000 individuals. This resource allows researchers to explore the frequency of EP300 gene variants in the general population.

6. ClinVar

ClinVar is a freely accessible resource that collects and curates information about genetic variants and their clinical significance. The database includes data on EP300 gene variants and their associations with diseases, providing important insights for diagnostic testing and genetic counseling.

These databases play a crucial role in advancing our understanding of the EP300 gene and its variants. By collecting and organizing information about this gene and its related variants, researchers can better study their impact on human health and develop targeted therapies for associated diseases.

References

1. Rubinstein-Taybi Syndrome. Genetics Home Reference.

   Available from: https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome

2. Hennekam Syndrome. Genetics Home Reference.

   Available from: https://ghr.nlm.nih.gov/condition/hennekam-syndrome

3. OMIM: EP300 gene.

   Available from: https://omim.org/entry/602700

4. Testing for EP300 gene changes. Cancer Genetics UK.

   Available from: https://www.cag-registers.org.uk/tests

5. EP300 – Exon 23 Variant. NCBI ClinVar.

   Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=EP300[gene]

6. Additional EP300 gene references. PubMed.

   Available from: https://pubmed.ncbi.nlm.nih.gov/?term=EP300[gene]

7. EP300 gene – Cancer Databases and Resources. Cancer Genetics UK.

   Available from: https://www.cag-registers.org.uk/cancer-databases