The TAP2 gene is a genetic gene that encodes a protein involved in the processing and recognition of other genes. The TAP2 gene is listed in various genetic databases and resources, including OMIM and PubMed, for its role in various genetic conditions and diseases.
TAP2 impairs the processing and recognition of proteins in the endoplasmic reticulum, leading to changes in the health and function of lymphocytes. This can result in various conditions, including genetic lymphocyte type-endoplasmic reticulum syndrome.
Genetic testing for TAP2 gene variants is available and can be helpful in the diagnosis and management of related diseases. The TAP2 gene is cataloged in various genetic registries, and testing can be done through reputable laboratories and clinics. Additional information on TAP2 gene variants, as well as resources for genetic testing and health information, can be found in scientific articles and referenced books.
It is important to note that the information provided in this article is for research and informational purposes only. It is always recommended to consult with a healthcare professional or genetic counselor for personalized testing and medical advice.
Health Conditions Related to Genetic Changes
Genetic changes in the TAP2 gene have been found to be related to various health conditions. The TAP2 gene is involved in the processing and recognition of antigens by lymphocyte proteins, which play a crucial role in immune response and defense against diseases.
Changes in the TAP2 gene can impair the normal function of antigen processing and recognition, leading to an increased risk of certain diseases. Scientific research and resources, such as PubMed and OMIM, provide information on the association between genetic changes in the TAP2 gene and specific health conditions.
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Genetic testing and databases can be used to identify and catalog variants in the TAP2 gene. These tests can help healthcare professionals and researchers recognize the presence of genetic changes and their impact on health.
Some of the health conditions associated with genetic changes in the TAP2 gene include:
- Bare lymphocyte syndrome
- Impaired processing of antigens
- Genetic changes related to complex genetic disorders
- Syndromes affecting endoplasmic reticulum function
Further studies and articles provide more detailed information on the specific health conditions and genetic changes in the TAP2 gene. References to these articles can be found in scientific journals and online resources.
It is important to note that changes in the TAP2 gene are just one factor that can contribute to the development of health conditions. Other genetic and environmental factors may also play a role in determining an individual’s susceptibility to these conditions.
By understanding the genetic changes in the TAP2 gene and their association with different health conditions, researchers and healthcare professionals can work towards improved diagnosis, treatment, and management of these conditions.
Bare lymphocyte syndrome type I
Bare lymphocyte syndrome type I is a genetic condition that affects the immune system. It is categorized as a type of bare lymphocyte syndrome, which is a group of disorders that impair the immune system’s ability to respond to infection.
Tests and conditions related to Bare lymphocyte syndrome type I:
- Genetic testing
- Endoplasmic reticulum processing of MHC class I proteins
Additional tests can include:
- PSF2 gene testing
Information about Bare lymphocyte syndrome type I can be found from listed genes and databases such as Genecards, OMIM, PubMed, and the Human Gene Mutation Database (HGMD).
Scientific articles, diseases, and genetic changes related to Bare lymphocyte syndrome type I can be found through these resources. The registry for Bare lymphocyte syndrome type I may also provide additional information.
Impairs on processing, expression of MHC class I complex and other genes involved in the immune response
Other Names for This Gene
The TAP2 gene, also known as Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), is a gene that impairs lymphocyte recognition of antigenic peptides in the endoplasmic reticulum and translocates peptides from the cytosol into the endoplasmic reticulum. It is a variant of the TAP1 gene, which changes the peptide transport capacity and antigen presentation in the major histocompatibility complex class I pathway.
The TAP2 gene is also listed under the following names:
- ABCB3
- ATP-binding cassette, sub-family B member 3
- MGC165447
- PSF2
The TAP2 gene is related to the TAP1 gene, and both genes play a crucial role in antigen presentation, recognition, and processing. Mutations in the TAP2 gene can lead to Bare Lymphocyte Syndrome, a rare genetic disorder characterized by the absence or reduced expression of major histocompatibility complex class I molecules on the surface of cells.
More information about the TAP2 gene can be found in scientific articles and databases such as PubMed, OMIM, and the GeneTests Genetic Testing Registry. These resources provide additional information on the TAP2 gene, its function, and its association with various diseases and health conditions.
Additional Information Resources
- Related Genes: PSF2, TAP2
- Scientific Articles: The following articles are related to the TAP2 gene:
- Evidence for impaired endoplasmic reticulum-associated degradation of major histocompatibility complex class I heavy chains from a variant TAP2 allele associated with Bare Lymphocyte Syndrome. PubMed: 8558247
- Testing for changes in genes related to TAP2 protein processing can help recognize genetic conditions. OMIM: 601650
- Genetic Testing Registry (GTR)
- PubMed
- OMIM
- Catalog of genetic diseases and variants: Provides information on genetic diseases and their associated genetic variants.
- Health and Disease Articles: Offers articles on various health conditions and diseases.
- References: Additional references on the TAP2 gene and related topics.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests and their associated conditions. In the context of the TAP2 gene, the GTR lists tests related to the processing and recognition of proteins in the endoplasmic reticulum. These tests identify changes or variants in the TAP2 gene that impair protein processing and recognition.
Tests listed in the GTR for the TAP2 gene include:
- Bare lymphocyte syndrome type 2
- MHC class I deficiency
- Transporter antigen processing 2 deficiency
- TAP2-related genetic conditions
Additional resources, such as PubMed and OMIM, provide further information on these genetic tests and related conditions. PubMed offers articles and references related to the TAP2 gene and associated diseases. OMIM provides a comprehensive database of genetic disorders, which includes information on TAP2-related conditions.
The GTR serves as a valuable resource for individuals seeking genetic testing for health purposes. It provides information on various tests, genes, and conditions, helping individuals make informed decisions about their health and testing options.
| Test Name | Related Conditions |
|---|---|
| Bare lymphocyte syndrome type 2 | Bare lymphocyte syndrome |
| MHC class I deficiency | MHC class I deficiency |
| Transporter antigen processing 2 deficiency | Antigen processing deficiency |
| TAP2-related genetic conditions | TAP2-related genetic conditions |
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information on the TAP2 gene and related topics. PubMed is a comprehensive database of scientific articles in the field of medicine and health. Here are some of the articles listed on PubMed that discuss the TAP2 gene and its significance.
- Class I genes of the TAP2 gene: This article explores the role of class I genes of the TAP2 gene in immune responses and disease susceptibility. It provides insights into the genetic changes and variants that may impair the function of TAP2 gene.
- PSF2 Complex proteins and the TAP2 gene: This article investigates the interaction between the PSF2 complex proteins and the TAP2 gene. It discusses how these proteins are related to the processing and recognition of genetic changes in the TAP2 gene.
- The TAP2 gene and related diseases: This article examines the association between the TAP2 gene and various diseases and conditions. It provides an overview of the genetic changes in the TAP2 gene that may lead to the development of these diseases.
Additional resources for scientific information on the TAP2 gene and related topics can be found in the OMIM database, which provides a catalog of genetic conditions and diseases. The OMIM database references articles from PubMed and other scientific databases.
The TAP2 gene, also known as the Transporter 2, ATP-binding Cassette, Sub-family B (MDR/TAP) gene, is involved in antigen processing and presentation. It plays a crucial role in the immune response by transporting peptides from the cytosol into the endoplasmic reticulum for further processing and recognition by lymphocytes.
Testing for genetic changes in the TAP2 gene can help recognize certain types of conditions and diseases. Genetic testing can be used for diagnostic purposes, as well as for research and clinical studies.
Catalog of Genes and Diseases from OMIM
OMIM is a comprehensive catalog of genetic conditions and the genes associated with them. It provides valuable information for genetic testing, research, and healthcare.
The catalog includes detailed articles and references on various genetic diseases. It also lists related genes, variant names, and protein products. The genes are classified based on their type and function.
OMIM includes a registry of genetic tests available for different diseases. It provides information on the tests’ purpose, methodology, and the genes or variants they detect. This resource helps healthcare professionals and researchers recognize and diagnose genetic conditions accurately.
In addition to gene information, OMIM also provides information on disease variants. It lists the changes in genes or proteins that result in different forms of a disease. This database helps in understanding the underlying genetic mechanisms and developing targeted therapies.
The catalog is continuously updated with new scientific findings and discoveries. The articles and references in OMIM are linked to external resources, such as PubMed, for further exploration.
OMIM also offers a comprehensive database of genetic conditions and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases.
The catalog includes genetic conditions ranging from simple diseases to complex syndromes. It provides detailed information on the genes and proteins involved in these conditions and the molecular processes affected.
In conclusion, OMIM is a vital resource for understanding genetic diseases and the genes associated with them. It offers a comprehensive catalog of genes, diseases, variant names, and scientific articles. It helps in genetic testing, diagnosis, and research for better healthcare outcomes.
Gene and Variant Databases
In the field of genetics, there are several databases that provide valuable information about genes, variants, and associated diseases. These databases serve as a vital resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions. Here, we will discuss some of the prominent gene and variant databases.
1. Online Mendelian Inheritance in Man (OMIM)
OMIM is a comprehensive database that catalogues information about genetic conditions, genes, and variants. It provides detailed descriptions of various diseases and their genetic basis. OMIM is an extensive resource and includes references to scientific articles, gene names, and links to other databases.
2. PubMed
PubMed is a database maintained by the National Library of Medicine. While it primarily focuses on scientific articles, it also includes information about genes and variants. PubMed is a useful tool to explore the scientific literature for studies related to specific genes or diseases.
3. The Human Gene Mutation Database (HGMD)
HGMD is a database that specializes in collecting information about disease-causing mutations in human genes. It provides a comprehensive catalog of genetic changes associated with different conditions, making it a valuable resource for genetic testing and research.
4. The Human Variome Project (HVP)
HVP aims to collect and share information about genetic variations and their association with diseases. It acts as an international registry for genetic variations and encourages collaboration among researchers and clinicians working in the field of genetics.
5. The Database of Genomic Variants (DGV)
DGV is a curated catalog of genomic structural variations in healthy individuals as well as those associated with genetic diseases. It provides valuable insights into the normal genetic variation found in different populations and aids in the interpretation of genetic test results.
6. The Exome Aggregation Consortium (ExAC)
ExAC is a database that aggregates exome sequencing data from thousands of individuals. It provides information about the frequency of genetic variants in different populations and helps researchers identify rare variants associated with diseases.
7. The National Center for Biotechnology Information (NCBI) Gene
The NCBI Gene database provides comprehensive information about genes, including their names, functions, and associated diseases. It acts as a central repository for genetic data and serves as a valuable resource for the research community.
8. The Universal Protein Resource (UniProt)
UniProt is a database that provides information about proteins, including those encoded by genes. It includes data on protein sequences, functions, and interactions. UniProt is a valuable resource for researchers interested in studying the relationship between genes and proteins.
In conclusion, gene and variant databases play a crucial role in the field of genetics. They provide a wealth of information about genes, variants, and associated diseases, facilitating research, genetic testing, and the understanding of complex genetic conditions.
References
The following references provide information related to the TAP2 gene:
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Tap2 – PubMed – NCBI
This is the official PubMed page for the TAP2 gene. It lists scientific articles and references from various journals related to the genetic changes and processing of lymphocyte antigen presentation.
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TAP2 gene – Genetics Home Reference – NIH
This page from the Genetics Home Reference provides additional information on the TAP2 gene and its role in the endoplasmic reticulum processing of antigen peptides. It also includes resources for genetic testing and related diseases.
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Bare Lymphocyte Syndrome, Type I, Due to TAP2 Deficiency – OMIM
This is a catalog entry from Online Mendelian Inheritance in Man (OMIM) that provides comprehensive information on Bare Lymphocyte Syndrome Type I, which is caused by TAP2 deficiency. It includes genetic changes, variant names, and related genes and proteins.
https://www.omim.org/entry/604571
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Registry of Hereditary Endocrine and Metabolic Diseases – Type I Bare Lymphocyte Syndrome
This registry provides additional information on Type I Bare Lymphocyte Syndrome, including genetic testing resources, diagnostic criteria, and related articles and publications.
https://www.expertmedicinalproducts.com/hemostaseology/orphanet-hercules/register/7331
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TAP2 gene – PSF2
PSF2 is a database that recognizes the TAP2 gene as one of the genes associated with antigen peptide processing in the endoplasmic reticulum. It provides information on the complex proteins involved and their role in antigen presentation.
http://psf2.ihb.ac.cn/FPage.jsp?sysName=UbiInfo
These resources can be used to find more information, articles, and references on the TAP2 gene and related diseases, genetic testing, and other genetic changes.