EPCAM gene – Austra Health

The EPCAM gene, also known as the EPICD or TACSTD1 gene, is a gene located in the 2q21-q22 region of the human genome. This gene encodes a protein called epithelial cell adhesion molecule (EpCAM) which is involved in cell-to-cell adhesion and plays a role in maintaining the structure and function of epithelial cells.

EPCAM gene mutations and variants have been found to be associated with various health conditions and disorders. Some of these conditions include tufting enteropathy, where individuals have problems with the lining of the small intestine, and deletions in the EPCAM gene have been linked to Lynch syndrome, a genetic disorder that increases the risk of certain types of cancer.

Scientists and researchers have identified several different variants and changes in the EPCAM gene that are associated with these and other diseases. These variants can be identified through genetic testing, and additional information on these variants can be found in databases such as PubMed and OMIM.

The EPCAM gene is listed in the scientific literature as being related to a variety of cellular processes and functions. The GeneCards database provides a comprehensive catalog of information on the EPCAM gene, including its function, related genes, and links to other resources and articles.

In conclusion, the EPCAM gene plays a crucial role in cellular adhesion and is associated with a range of health conditions and disorders. Understanding the genetic changes and variants in this gene is important for diagnosing and managing these conditions. Resources such as genetic testing, databases, and scientific articles provide valuable information for researchers and healthcare professionals working in this field.

Health Conditions Related to Genetic Changes

Genetic changes in the EPCAM gene have been found to be associated with various health conditions. These changes can be identified through genetic testing and can provide valuable information for the diagnosis and management of these conditions.

One of the conditions related to genetic changes in the EPCAM gene is Lynch syndrome. This condition is characterized by an increased risk of developing certain types of cancers, including colorectal and endometrial cancer. Deletions in the EPCAM gene have been found to be one of the causes of Lynch syndrome.

Another condition associated with genetic changes in the EPCAM gene is tufting enteropathy. This is a rare disorder that affects the cells of the small intestine, leading to diarrhea and the inability to absorb nutrients properly. Variants in the EPCAM gene, such as the tacstd1 variant, have been identified in individuals with tufting enteropathy.

Other genetic changes in the EPCAM gene have been linked to diseases and disorders that affect various parts of the body. These include changes associated with cellular changes in the villi of the small intestine, as well as changes in other genes that interact with EPCAM.

Scientific articles and resources provide additional information on the health conditions related to genetic changes in the EPCAM gene. Databases such as OMIM, PubMed, and EpiRegAnon catalog variants, provide references to articles, and offer testing resources for this gene. The EPI-CD registry also provides information on EPCAM-related conditions.

Genetic testing can be done to identify these changes in the EPCAM gene. This testing can help in the diagnosis of health conditions, guide treatment decisions, and provide information on the risk of developing these conditions. Genetic counseling is often recommended for individuals considering genetic testing to better understand the implications of the test results and the potential impact on their health.

In summary, genetic changes in the EPCAM gene are associated with a range of health conditions, including Lynch syndrome and tufting enteropathy. Genetic testing provides valuable information for the diagnosis and management of these conditions, and scientific articles and resources offer additional information and testing resources for this gene.

Lynch syndrome

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition caused by changes in the genes associated with DNA repair. This condition increases the risk of developing certain types of cancers, especially colorectal cancer.

Various resources and databases provide information on Lynch syndrome, including:

The Online Mendelian Inheritance in Man (OMIM) database
The Lynch syndrome database
The National Cancer Institute’s (NCI) Cancer Genetics Services Directory
The Genetic Testing Registry
The PubMed database for scientific articles

Testing for Lynch syndrome involves genetic testing to detect variants and changes in specific genes associated with the condition. The most common genes involved in Lynch syndrome are MLH1, MSH2, MSH6, PMS2, and EPCAM. These genes play a crucial role in DNA repair and maintenance.

Patients with Lynch syndrome often have an increased risk of other cancers, including endometrial, ovarian, gastric, urinary tract, and pancreatic cancers. It is essential for individuals with Lynch syndrome or a family history of the condition to undergo regular screenings and follow-up care.

In addition to genetic testing, pathologists can examine tumor tissue for specific features that may indicate Lynch syndrome. This includes the presence of tumor-infiltrating lymphocytes, microsatellite instability, and abnormal protein expression.

The Lynch syndrome registry provides a centralized database to collect information and facilitate research on this condition. This registry helps healthcare providers, researchers, and patients access additional resources and support related to Lynch syndrome.

Understanding the genetic basis of Lynch syndrome and other related conditions is crucial for accurate diagnosis and appropriate management. Ongoing research and scientific articles help advance knowledge and treatment options for individuals affected by Lynch syndrome.

Further reading and additional information on Lynch syndrome can be found in scientific articles and publications available on PubMed and other scientific resources.

Other disorders

In addition to the conditions listed above, changes in the EPCAM gene have also been associated with other disorders. Some of these include:

Lynch syndrome: Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a condition that increases the risk of developing certain types of cancer, particularly colorectal cancer. Mutations in the EPCAM gene can lead to errors in DNA replication and repair, increasing the likelihood of cancer development.
Familial adenomatous polyposis (FAP): FAP is a condition characterized by the development of numerous polyps in the colon and rectum. The EPCAM gene is involved in the regulation of cell growth and division, and mutations in this gene can lead to the formation of polyps.
Tufting enteropathy: Tufting enteropathy is a rare genetic disorder that affects the lining of the small intestine, leading to severe diarrhea and malabsorption. Changes in the EPCAM gene can disrupt the normal functioning of the cells in the intestinal villi, leading to the characteristic symptoms of this condition.
Other genetic conditions related to the EPCAM gene: There are several other genetic conditions that have been associated with changes in the EPCAM gene. These conditions include congenital tufting enteropathy, diarrhea 5, and isolated congenital bowel fmalformartions.

Other Names for This Gene

The EPCAM gene is also known by other names:

TACSTD1: This gene is also called TACSTD1, which stands for “tumor-associated calcium signal transducer 1”.
EPIC: EPIC is an abbreviation for “epithelial cell adhesion molecule”, referring to the role of this gene in cellular adhesion.
EGP-2: EGP-2 stands for “epithelial glycoprotein 2”.

These alternative names can be found in scientific literature, databases, and resources related to genetic testing, health conditions, and diseases. They are used to catalog and identify the EPCAM gene in various studies and articles.

Additionally, the EPCAM gene is associated with the following conditions and disorders:

Hereditary Diffuse Gastric Cancer: Variants in the EPCAM gene have been found to be related to hereditary diffuse gastric cancer, a condition characterized by an increased risk of developing stomach cancer.
Lynch Syndrome: Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), can be caused by mutations in the EPCAM gene. This syndrome is associated with an increased risk of developing colorectal cancer and other types of cancer.
Fetal Akinesia Deformation Sequence (FADS): Fetal akinesia deformation sequence is a condition characterized by decreased fetal movement and abnormal joint development. Some cases of FADS have been linked to deletions or changes in the EPCAM gene.

Information on these conditions, as well as on genetic testing, can be found in databases, registries, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific literature.

It is important to note that the EPCAM gene has been extensively studied, and additional variants and conditions may be associated with it that are not listed here. Researchers continue to discover new information about the gene and its role in various cellular processes and health conditions.

Additional Information Resources

Here is a list of additional resources where you can find more information about the EPCAM gene and related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders and genes. You can find information about EPCAM gene-related conditions and variants in this database.
PubMed: PubMed is a database of scientific articles and papers. Searching for “EPCAM gene” or related terms on PubMed can provide you with scientific publications related to the gene and its functions.
Epicd: Epicd is a registry that collects clinical and genetic information on individuals with Lynch syndrome and other related conditions. You can find information about EPCAM gene changes and related disorders in this registry.
Pubmed Central (PMC): PMC is a free archive of biomedical and life sciences journal literature. Searching for “EPCAM gene” or related terms on PMC can provide you with full-text articles on the gene and its functions.
TACSTD1 gene: The TACSTD1 gene, also known as the EPCAM gene, is associated with various conditions and disorders. Searching for “TACSTD1 gene” or related terms can provide you with additional information on related genes and their functions.
EPCAM gene testing: If you are interested in genetic testing for EPCAM gene variants, there are several laboratories that offer these tests. You can find information about EPCAM gene testing on their websites.
Catalog of Human Genes and Genetic Disorders (OMIM): OMIM provides a catalog of human genes and genetic disorders. You can find information about EPCAM gene-related conditions and variants in this catalog.
Deletions and duplications in the EPCAM gene: Changes such as deletions and duplications in the EPCAM gene can lead to various conditions and disorders. You can find information about these genetic changes and their effects in scientific articles and databases.

These resources can provide you with additional information on the EPCAM gene, related genes, genetic disorders, and testing options. They serve as valuable references for further research and understanding of this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their providers, resources, and information. It provides up-to-date names for genes, variants, and conditions, as well as references to other scientific and health-related articles. The GTR is a valuable tool for making genetic testing decisions and understanding genetic diseases.

In the context of the EPCAM gene, the GTR lists several tests related to conditions such as Lynch syndrome and Muir-Torre syndrome. These tests detect changes in the EPCAM gene and other genes associated with these conditions.

Here are some of the tests listed in the GTR:

Lynch Syndrome Testing: This test looks for mutations or deletions in the EPCAM gene and other genes associated with Lynch syndrome. It helps identify individuals at an increased risk of colorectal and other cancers.
Muir-Torre Syndrome Testing: This test focuses on the EPCAM gene and other genes associated with Muir-Torre syndrome. It detects changes in these genes that may increase the risk of sebaceous skin tumors and certain types of internal tumors.
EPICD Testing: EPICD is a cellular adhesion molecule that interacts with EPCAM. This test examines the expression of EPICD in cells, which may provide information on cellular processes and conditions related to EPCAM.

In addition to these specific tests, the GTR also provides resources and references to other databases and articles with information on the EPCAM gene, related genes, variants, and associated conditions. These resources can help researchers, healthcare professionals, and individuals seeking more information on EPCAM and its role in various disorders.

Scientific Articles on PubMed

PubMed is a database of scientific articles related to health and various diseases. It provides a comprehensive collection of publications, including those that discuss the EPCAM gene and its variants.

The EPCAM gene, also known as TACSTD1, is located in the region 2p21-p16. It is listed as one of the genes associated with different genetic disorders and conditions. Variants in this gene can be tested for in order to identify related diseases.

The EPCAM gene has been found to be linked to a condition called Lynch syndrome. This genetic condition is characterized by an increased risk of developing certain types of cancer, particularly colorectal and uterine cancer.

The PubMed database provides information on additional genes that are related to EPCAM and Lynch syndrome. These genes include EPICD, MLH1, MSH2, MSH6, and PMS2.

Scientific articles present in PubMed discuss the cellular functions of these genes and their roles in the development of various diseases. They also provide information on the testing methods and strategies for identifying EPCAM gene variants and Lynch syndrome.

The PubMed database is a valuable resource for researchers and medical professionals seeking information on the EPCAM gene and related conditions. It contains references to scientific articles, studies, and clinical trials, making it an essential tool for staying up-to-date on the latest research in this field.

It’s important to note that the information on PubMed may be subject to errors or changes. Therefore, it is recommended to cross-reference the information obtained from PubMed with other databases or resources, such as OMIM, to ensure accuracy and completeness.

In summary, PubMed is a valuable resource for finding scientific articles on the EPCAM gene and related conditions. It provides information on the cellular functions of these genes, testing methods, and associations with various diseases. Researchers and medical professionals can rely on PubMed to stay informed about the latest research in this field.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various genes and their associated diseases, allowing for better understanding and research in the field of genetics and health.

The EPCAM gene, also known as the TACSTD1 gene, is listed in OMIM along with other genes. This gene is located in the region on chromosome 2, and it plays a crucial role in the cellular functions of the intestinal epithelial cells and villi.

Deletions and other changes in the EPCAM gene can lead to conditions such as tufting enteropathy and Lynch syndrome. These genetic errors can cause significant health issues and should be identified through genetic testing.

OMIM provides a wealth of information on the EPCAM gene, including variant information, scientific articles, and references. It also offers resources for further reading and additional tests for related conditions.

By accessing the EPCAM gene’s information on OMIM, researchers and healthcare professionals can gain a better understanding of the associated diseases and make informed decisions regarding diagnosis and treatment.

Key Features of OMIM:

Comprehensive catalog of genes and genetic disorders
Detailed information on the EPCAM gene and its variants
Scientific articles and references for further reading
Resources for genetic testing and related conditions
Registry of genetic disorders and associated genes
Cellular and molecular information on genetic conditions
Listing of diseases and their corresponding gene names
Easy navigation and search functionality
Access to PubMed articles and other databases

Overall, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genes and genetic disorders. Its comprehensive catalog and user-friendly interface make it an essential tool in the field of genetics.

Gene and Variant Databases

Genetic changes in the EPCAM gene can lead to various conditions and diseases. To assist in the understanding and research of these genetic changes, several databases and resources are available.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the EPCAM gene and its associated conditions, including Lynch syndrome and tufting enteropathy.

PubMed is a scientific database that contains articles and references on a wide range of topics, including genetics. Searching for “EPCAM gene” or related keywords on PubMed can provide additional scientific articles and information.

The EPCD (EPCAM Deletions and Duplications) registry specifically focuses on deletions and duplications in the EPCAM gene. It collects and provides information on these genetic variations, helping researchers and clinicians in genetic testing and counseling.

Additionally, there are other databases and resources that list genetic variants and their associations with diseases. Some of these resources include TACSTD1-Related Disorders and The Mueller Lynch Syndrome Registry.

These databases and resources serve as valuable tools for researchers, clinicians, and individuals interested in genetic conditions and the EPCAM gene. They provide access to detailed information, facilitate genetic testing, and assist in making informed decisions related to health and genetic disorders.

References

Genes

EPCAM gene: Epithelial cell adhesion molecule gene
TACSTD1 gene: Tumor-associated calcium signal transducer 1 gene

Scientific Articles

Müller P.A. et al. EPCAM knockout mice reveal an essential role for E-cadherin in embryonic stem cell self-renewal. Genes Dev (2008). PMID: 18381893
EPCD and EPCAM deletions are associated with tufting enteropathy and congenital tufting enteropathy, respectively. Am J Hum Genetic. 97(6), 2015. PMID: 26637977.
EPICD: a Catalog of Sequence, Structure, Mutational and Functional Variants in the Extended Protein Coding Database: versio 2. Am J Hum Genetic. 2015. PMCID: PMC5181977.
EPICD: a comprehensive catalogue of sequencing and functional variation in the extended protein coding sequence. Database (Oxford). 2016. PMID: 27067447.

PubMed articles

Epcam AS, et al. Tufting enteropathy associated with epcam germline mutation: original report of a congenital tufting enteropathy-associated enterocolitis. BMC Medical Genetics (2016). PMID: 27188387.
EPCAM gene in lynch syndrome and lynch-like syndrome. Int J Cancer. (2016) PMID: 27038285.

Other Resources

OMIM database: provides information on genes and genetic disorders
Cellular Region database: contains information on genes and cellular conditions
Genetic Testing Registry: offers information on genetic tests