The CATSPER2 gene, also known as the Cation Channel Sperm Associated 2 gene, is a gene that is of significant interest in the scientific community. It is listed in various genetic databases and is the focus of numerous articles and research studies. This gene plays a crucial role in male fertility and is associated with certain conditions and diseases.
One of the main functions of the CATSPER2 gene is its role in male infertility. Variants in this gene have been found to cause infertility in men by affecting the function of sperm cells. These variants can lead to a decrease in sperm motility, making it difficult for sperm to reach and fertilize an egg. Researchers continue to investigate the specific mechanisms by which the CATSPER2 gene influences male fertility.
In addition to its role in male infertility, the CATSPER2 gene has also been associated with sensorineural deafness. Variants in the gene have been found in individuals with a hereditary form of deafness characterized by a lack of response to sound. This suggests that the CATSPER2 gene may play a role in the development and function of auditory cells in the inner ear.
Information about the CATSPER2 gene can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These databases provide references to scientific articles and resources for further reading and research. PubMed, a database of scientific articles, also lists numerous articles related to the CATSPER2 gene and its associated conditions and diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the CATSPER2 gene can have significant implications for health. Here, we provide information on some of the health conditions related to these genetic changes:
Deafness
Genetic changes in the CATSPER2 gene have been associated with sensorineural deafness, a type of deafness that occurs due to problems with the inner ear or the auditory nerve. This genetic change can lead to a lack of normal function in the cells of the inner ear, resulting in hearing loss.
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Infertility
In males, genetic changes in the CATSPER2 gene have been linked to infertility. This gene plays a crucial role in sperm motility, and any changes in its structure or function can impair the ability of sperm to fertilize an egg.
Other health conditions
In addition to deafness and infertility, genetic changes in the CATSPER2 gene may be related to other health conditions. However, further research is needed to fully understand the implications of these genetic changes.
Testing and Resources
If you suspect a genetic change in the CATSPER2 gene or want to learn more about these health conditions, the following resources and tests may be helpful:
- Genetic testing: Genetic testing can detect changes in the CATSPER2 gene and provide more information about an individual’s genetic makeup.
- PubMed articles: PubMed, a scientific database, contains numerous articles on the CATSPER2 gene and related health conditions. Searching for specific keywords can provide more in-depth information.
- OMIM gene registry: The Online Mendelian Inheritance in Man (OMIM) gene registry lists genetic diseases and their associated genes. The CATSPER2 gene may be listed here with additional information.
References
For more scientific information on the CATSPER2 gene and its related health conditions, the following references can be consulted:
- Scientific articles on PubMed
- OMIM database
- Other scientific databases and resources
It is important to consult with healthcare professionals and genetic counselors for comprehensive guidance and interpretation of genetic test results.
Sensorineural deafness and male infertility
Sensorineural deafness and male infertility are two distinct diseases that can occur independently or together. Sensorineural deafness refers to a type of hearing loss that involves damage to the inner ear or the nerve pathways that transmit sound signals to the brain. Male infertility, on the other hand, refers to the inability of a male to impregnate a female due to problems with sperm production or function.
In some cases, sensorineural deafness and male infertility can be caused by genetic changes in the CATSPER2 gene. The CATSPER2 gene provides instructions for making a protein that is involved in the function of sperm cells. Variants in this gene can disrupt the normal function of the protein, leading to both sensorineural deafness and male infertility.
More information about the CATSPER2 gene and its role in these conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genetic basis of diseases and conditions. It includes references to scientific articles, testing resources, and other related genes.
Genetic testing can be useful for individuals with sensorineural deafness or male infertility who are interested in learning more about the underlying cause of their condition. Tests can identify changes in the CATSPER2 gene, as well as other genes that may be involved in these conditions.
The PubMed database is another valuable resource for finding scientific articles related to sensorineural deafness and male infertility. This database includes a vast collection of articles from reputable scientific journals. By using relevant keywords such as “CATSPER2 gene” or “sensorineural deafness and male infertility,” individuals can find up-to-date information on the latest research and discoveries in this field.
In addition to the OMIM and PubMed databases, there are other databases and registries that provide information on genetic changes, diseases, and genes. These resources can be helpful for individuals seeking additional information or support. Examples include the GeneReviews database, the Global Variome shared and curated databases, and the Human Gene Mutation Database.
It is important to remember that genetic changes in the CATSPER2 gene are just one possible cause of sensorineural deafness and male infertility. There may be other genes and factors involved as well. Genetic testing and consultation with a healthcare professional can help individuals determine the most appropriate testing and treatment options for their specific situation.
Other Names for This Gene
The CATSPER2 gene is also known by other names:
- Gene Registry ID: listed in the Gene Registry under registry ID CATSPER2
- Alias: for this gene, CATSPER2 is also known as Cation Channel Sperm Associated Protein Subunit Beta 2
- Gene Symbol: CATSPER2 is the official gene symbol for this gene
- Gene ID: 117154
- Disease: mutations in CATSPER2 have been associated with tail infertility and male infertility
- Related Genes: other genes related to CATSPER2 include CATSPER1, CATSPER3, CATSPER4, and CATSPERB
Additional names and changes for this gene may be found in scientific articles, databases, and resources:
- PubMed: numerous articles related to the CATSPER2 gene can be found in the PubMed database
- Catalog of Genetic Diseases: CATSPER2 is included in the catalog of genetic diseases
- Testing: genetic testing for CATSPER2 mutations is available from various testing labs
- Sensorineural Deafness: some studies have suggested a possible correlation between CATSPER2 variants and sensorineural deafness
- Cell Testing: CATSPER2 may be tested in cell lines to investigate its role and function in sperm cells
These are just a few of the names, conditions, and resources associated with the CATSPER2 gene. For more information, further research and references are recommended.
Additional Information Resources
For additional information on the CATSPER2 gene and related genes, the following resources may be helpful:
- PubMed: A scientific research database that provides access to articles on various genes, including the CATSPER2 gene. It can be used to search for information on genetic testing, changes in the gene, and other related topics.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on genes, genetic conditions, and diseases. It provides detailed summaries and references for genes associated with male infertility, deafness, and other conditions related to CATSPER2.
- ClinVar: A public archive of genetic variations and their relationship to human health. It includes information on variants in the CATSPER2 gene and their clinical significance.
- GeneCards: An integrated database that provides information on genes, including CATSPER2. It includes a comprehensive summary of the gene, its functions, associated diseases, and references to scientific articles.
- The Human Gene Mutation Database (HGMD): A comprehensive collection of germline mutations associated with human inherited diseases. It provides information on genetic changes in the CATSPER2 gene.
- The Genetic Testing Registry (GTR): A resource that provides information on genetic tests available for various genes and conditions. It includes information on genetic tests for CATSPER2-related conditions.
Please note that the above list is not exhaustive, and there may be other resources available. It is always recommended to consult scientific articles and reputable databases for the most up-to-date and accurate information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database of genetic tests and related health conditions. It provides information about the tests and the genes associated with them. The GTR is a scientific resource that helps researchers and healthcare professionals find information about genetic testing, including which genes are tested for certain diseases or conditions.
Tests listed in the GTR can be searched by gene name, condition name, or test name. The GTR includes information about genetic tests for a wide range of conditions, such as deafness, male infertility, and sensorineural cell changes. It also provides references to articles and other scientific resources that contain additional information about the genes and conditions.
When searching for a specific gene or condition in the GTR, users can find a detailed description of the genetic test, including the variant(s) that are tested for. Users can also find information about the specific diseases or conditions associated with the gene, such as OMIM numbers or names. The GTR provides links to PubMed articles and other databases for further reading and research.
In addition to the GTR, there are other genetic databases that list tests and genes related to specific conditions. These databases can be accessed to find more information about specific genes and their role in certain diseases or conditions.
Overall, the Genetic Testing Registry is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing. It provides a comprehensive catalog of genetic tests, genes, and related health conditions, as well as references to scientific articles and other resources for further exploration.
Scientific Articles on PubMed
PubMed is a comprehensive database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers, clinicians, and other health professionals to stay updated on the latest advancements in their fields of interest. Specifically, PubMed offers a wide range of articles related to the CATSPER2 gene, which plays a crucial role in male fertility and sensorineural deafness.
The CATSPER2 gene is listed in the OMIM database, which catalogs genetic conditions and related genes. Research on this gene has revealed its involvement in various diseases and conditions, including male infertility and sensorineural deafness. PubMed provides access to numerous articles that discuss the genetic changes and variant forms of the CATSPER2 gene, along with the tests and tail studies conducted to understand its implications on human health.
These scientific articles on PubMed offer valuable information for researchers and clinicians who aim to explore the functions and significance of the CATSPER2 gene. By studying the gene’s role in male fertility and sensorineural deafness, researchers can better understand the underlying mechanisms and potentially develop new diagnostic tests and treatments for related conditions.
In addition to articles specifically focusing on the CATSPER2 gene, PubMed also offers resources that provide a broader perspective on male infertility, sensorineural deafness, and other related conditions. These resources include references to other genes, cells, and genes involved in the pathways associated with these conditions.
The scientific articles available on PubMed cover a wide range of topics related to the CATSPER2 gene, and they serve as a valuable tool for researchers and health professionals in staying up to date with the latest advancements in this field. By pushing the boundaries of knowledge, these publications contribute to the collective understanding of male fertility, sensorineural deafness, and other related conditions.
| PubMed | – | A comprehensive scientific article database |
|---|---|---|
| CATSPER2 gene | – | Plays a role in male fertility and sensorineural deafness |
| OMIM database | – | Catalogs genetic conditions and related genes |
| Gene variants | – | Changes observed in the CATSPER2 gene |
| Tests and studies | – | Conducted to understand the implications |
| Male infertility | – | One of the conditions related to the CATSPER2 gene |
| Sensorineural deafness | – | Another condition related to the gene |
- PubMed provides access to scientific articles related to the CATSPER2 gene
- These articles offer information on genetic changes, variant forms, and tests related to the gene
- Research on the CATSPER2 gene contributes to the understanding of male fertility and sensorineural deafness
- PubMed also offers resources on related genes, cells, and pathways
- Researchers and health professionals can use PubMed to stay updated on the latest advancements in this field
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive and constantly updated database that catalogues the relationships between genes and diseases. It provides valuable information on a wide range of genetic conditions, including deafness-related disorders. Out of the thousands of genes listed in the OMIM database, one of interest is the CATSPER2 gene.
The CATSPER2 gene is associated with male infertility and is involved in the formation of sperm cells. Mutations in this gene can lead to a lack of functional sperm tails, resulting in difficulties with fertility. This gene is specifically responsible for the production of a protein that is critical for the development and function of the tail in sperm cells.
OMIM provides resources such as scientific articles, genetic testing information, and additional databases for further exploration. They also list other diseases and conditions that may be related to the CATSPER2 gene. Some of the other diseases associated with this gene include sensorineural hearing loss and changes in tail morphology.
For researchers and healthcare professionals, OMIM offers a wealth of information and references for further study. Their catalog of genes and diseases, including the CATSPER2 gene, allows for a deeper understanding of the genetic basis of various health conditions. OMIM provides an invaluable tool for genetic testing, research, and connecting the dots between genes and diseases.
Gene and Variant Databases
Gene and variant databases provide essential information regarding the CATSPER2 gene and its related variants. These databases serve as valuable resources for scientists, clinicians, and individuals interested in understanding the role of this gene in various diseases and conditions.
The CATSPER2 gene, also known as the Cation Channel Sperm-associated 2 gene, is associated with male infertility and sensorineural deafness. Variants or changes in this gene can lead to a lack of tail-like protrusions in sperm cells, causing male infertility, as well as sensorineural deafness.
Gene and variant databases list the names and characteristics of these variants, providing additional information such as associated diseases and conditions. They also offer scientific articles, references, and other resources for further exploration.
One commonly used database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions and genes. OMIM includes a catalog of genetic testing laboratories that offer testing for genes related to CATSPER2 and associated conditions.
Another valuable database is PubMed, a comprehensive resource that provides access to scientific articles related to CATSPER2 and its role in different diseases and conditions. These articles can be useful for researchers and healthcare professionals looking for the latest research and clinical findings.
Furthermore, gene and variant databases often provide information on related genes and conditions, allowing users to explore the broader context and potential interactions. This can help researchers and clinicians better understand the genetic basis of various diseases and conditions.
| Database | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man. Catalog of genetic testing laboratories. |
| PubMed | Provides access to scientific articles and references. |
In conclusion, gene and variant databases are essential resources for understanding the CATSPER2 gene and its associated variants. They provide information on the genetic basis of male infertility and sensorineural deafness, offering testing options, scientific articles, and references. These databases play a crucial role in advancing scientific knowledge and improving health outcomes.
References
- PubMed – A search engine for accessing biomedical literature.
- “References” – A section in scientific articles that list the sources and studies cited.
- Deafness – A condition related to the loss of hearing.
- Articles – Scientific papers that provide information and research findings.
- Cells – Basic units of life and building blocks of all organisms.
- Listed – Refers to the inclusion of something in a specific list or catalog.
- Scientific – Relating to the study and discovery of knowledge through systematic methods.
- Related – Connected or associated with something.
- Catalog – A systematic list of items or information.
- Conditions – The state or circumstances in which something exists or occurs.
- Other – Refers to something additional or different from what has been mentioned.
- Of – A preposition used to indicate possession, origin, or connection.
- Diseases – Abnormal conditions or disorders that affect the functioning of the body.
- Cell – The basic structural and functional unit of all living organisms.
- Genetic – Relating to genes and heredity.
- In – Indicates inclusion within or involvement in a particular space, situation, or process.
- Testing – The process of evaluating or examining something to determine its quality or nature.
- Genes – Segments of DNA that contain instructions for the development and functioning of living organisms.
- Changes – Alterations or modifications in something.
- The – Denoting one or more people or things already mentioned or assumed to be known.
- PubMed – A search engine for accessing biomedical literature.
- Tail – The hindmost part of an animal’s body.
- Databases – Structured collections of data, organized for efficient storage and retrieval.
- OMIM – Online Mendelian Inheritance in Man, a database of human genes and genetic disorders.
- Health – The state of being free from illness or injury.
- Tests – Procedures or methods used to assess or measure something.
- On – Having something as a subject or topic.
- Genes – Segments of DNA that contain instructions for the development and functioning of living organisms.
- Gene – A unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
- Registry – A systematically organized record of names, events, or acts.
- From – Indicating the point in space at which a journey, motion, or action starts.
- Lack – The state of being without or not having enough of something.
- Names – Words or phrases used to identify someone or something.
- To – Indicating the direction or movement toward a particular place.
- Variant – A form or version of something that differs in some respect from other forms of the same thing or from a standard.
- Information – Facts or data about something or someone.
- Push – To exert force on someone or something in order to move them away from oneself or from the source of the force.
- This – Refers to something or someone that is present or near.
- Male – Pertaining to the sex that typically has XY chromosomes and produces sperm.
- Resources – Materials, funds, or personnel that are available or can be used for a particular purpose.
- Infertility – The inability to conceive children or carry a pregnancy to full term.
- Additional – Something extra or supplementary.