The HNRNPK gene is a protein-coding gene that is involved in various cellular processes, including gene expression, RNA processing, and cellular differentiation. It has been linked to several health conditions and diseases, including certain types of cancers and genetic syndromes.
Scientific articles and databases have listed the HNRNPK gene as a key player in the regulation of gene activity and cellular plasticity. It is also known as heterogeneous nuclear ribonucleoprotein K and is located on chromosome 9p21.1.
Changes in the HNRNPK gene have been found to be associated with a wide range of diseases and conditions. For example, mutations in this gene have been identified in patients with Au-Kline Syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, and other physical and behavioral abnormalities. Furthermore, studies have shown a potential connection between HNRNPK gene variants and certain types of cancers.
Testing for changes in the HNRNPK gene can be done through genetic testing and sequencing. This can provide valuable information about an individual’s risk for certain diseases and can aid in diagnosis and treatment. Additionally, the HNRNPK gene is included in various databases and registries, such as Online Mendelian Inheritance in Man (OMIM), where researchers and healthcare professionals can find additional information and references.
Health Conditions Related to Genetic Changes
Genetic changes in the HNRNPK gene have been found to be associated with a variety of health conditions. Several studies have reported additional genetic variants in this gene and their relationship to various diseases and cancers.
The HNRNPK gene, also known as Heterogeneous Nuclear Ribonucleoprotein K, is involved in the regulation of gene expression and the differentiation of cells. It plays a critical role in cellular processes such as RNA processing, mRNA export, and translation regulation.
Research has shown that changes in the HNRNPK gene can lead to alterations in the activity of proteins encoded by other genes. These changes can affect cellular plasticity, differentiation, and the development of certain diseases and cancers.
To date, the HNRNPK gene has been associated with several health conditions. These conditions include but are not limited to:
- Au-Kline syndrome: A rare condition characterized by intellectual disability, physical anomalies, and other developmental abnormalities. This condition is caused by specific genetic changes in the HNRNPK gene.
- Innes syndrome: Another rare genetic disorder that affects the development of multiple organ systems. Specific variations in the HNRNPK gene have been identified in individuals with this condition.
- Various cancers: Studies have suggested an association between alterations in the HNRNPK gene and the development of certain cancers, including breast cancer and lung cancer.
The information on these health conditions related to the HNRNPK gene can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including those involving the HNRNPK gene. PubMed and other scientific literature databases also contain articles discussing the association between HNRNPK gene changes and specific health conditions.
It is important to note that genetic testing and further investigation are necessary to confirm the presence of HNRNPK gene changes in individuals with these health conditions. Genetic testing can be performed to identify specific variants in the HNRNPK gene, which can help in the diagnosis and management of affected individuals.
Overall, the HNRNPK gene is a significant gene that plays a crucial role in cellular processes and health. Further research and testing are needed to fully understand the relationship between genetic changes in this gene and various health conditions.
Au-Kline syndrome
Au-Kline syndrome is a genetic condition caused by changes in the HNRNPK gene. It was first described in scientific articles published in PubMed, a database of biomedical literature. The HNRNPK gene encodes a protein called heterogeneous nuclear ribonucleoprotein K (hnRNP K), which plays a crucial role in the regulation of gene activity and cellular processes.
Individuals with Au-Kline syndrome experience various health issues, including developmental delays, intellectual disability, and distinctive facial features. This syndrome is characterized by altered cellular differentiation and plasticity, which can lead to abnormalities in different systems of the body.
The Au-Kline syndrome has been identified in a limited number of individuals, and further research is needed to understand its exact prevalence and underlying mechanisms.
Symptoms and Related Conditions
Au-Kline syndrome is associated with certain characteristic features, such as intellectual disability, delayed speech and language development, and distinctive facial appearance including a broad forehead and wide-spaced eyes. However, the clinical presentation of this condition may vary between affected individuals.
Although Au-Kline syndrome is primarily caused by changes in the HNRNPK gene, additional genetic variants and environmental factors may contribute to the variability in symptoms observed in affected individuals.
Currently, limited information is available on the relationship between Au-Kline syndrome and other diseases or conditions. The Innes & Innes Genetic Testing Registry provides a catalog of genes and conditions, but Au-Kline syndrome is not listed among the entries. Further research is needed to explore any potential connections.
Genetic Testing and Diagnosis
To confirm a diagnosis of Au-Kline syndrome, genetic testing can be performed to identify changes or mutations in the HNRNPK gene. This testing may involve sequencing the entire coding region of the gene or searching for specific known variants.
It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
Research and Resources
Further research and resources on Au-Kline syndrome can be found in scientific articles published in PubMed and other databases. These resources provide valuable information on the genetic basis, clinical features, and management of this condition.
Due to the rarity of Au-Kline syndrome, there are limited resources available specifically dedicated to this condition. However, there are various organizations and support groups that provide general information and resources for individuals and families living with genetic conditions.
Cancers
Cancers are conditions characterized by uncontrolled cell growth and division. They can affect various organs and tissues in the body. The HNRNPK gene, also known as “Heterogeneous Nuclear Ribonucleoprotein K,” has been found to play a role in certain cancers.
Resources, such as PubMed, provide scientific articles and references for studying the genetic information related to cancers. The HNRNPK gene is listed in gene databases and can be tested for changes or mutations that may be linked to the development of certain cancers.
The HNRNPK gene is involved in cellular processes and the regulation of genes in different systems. Studies by Au-Kline et al. and Zhang et al. have demonstrated the activity and function of the HNRNPK gene in cancer development and progression.
There are several cancers and diseases that have been associated with the HNRNPK gene. The OMIM database provides detailed information on the HNRNPK gene and its possible roles in different cancers, including breast cancer, lung cancer, and colorectal cancer.
Tests and genetic screening can be performed to determine if there are any changes or mutations in the HNRNPK gene. This information can be useful for diagnosing and managing certain cancers.
In addition to cancers, the HNRNPK gene has also been linked to other conditions such as the AU-Kline syndrome. The registry for AU-Kline syndrome provides resources and information for individuals and families affected by this condition.
Further research is needed to understand the exact relationship between the HNRNPK gene and cancers. Studies have shown that changes in this gene can influence cellular plasticity and differentiation, which may contribute to the development and progression of cancers.
In summary, the HNRNPK gene is associated with certain cancers and other conditions. It is important to consult healthcare professionals and genetic testing services for additional information and resources related to the HNRNPK gene and its role in cancer development and treatment.
Other Names for This Gene
Other names for the HNRNPK gene include:
- AU-Kline syndrome
- Innes syndrome
- AU-Kline conditions
- Zhang syndrome
The HNRNPK gene is also known by certain variant names, including:
- HNRPK
- HNRP-K
- HNRNP-K
The gene is listed in various scientific databases and resources under these names.
These names are related to the gene’s activity and function in cells, particularly in cellular differentiation and plasticity. Research and testing have shown that changes in the HNRNPK gene and related proteins can be associated with certain diseases and conditions.
For more information on the HNRNPK gene and its various names, additional references and resources can be found in databases such as OMIM and PubMed. These resources provide further information on genetic testing, related genes, and articles on diseases and conditions associated with HNRNPK.
A catalog of related genes and proteins, as well as their functions and interactions, can also be found in scientific databases and resources.
It is important to note that the information on genes and their associated names, conditions, and activities is constantly evolving, and new findings may lead to changes in the understanding and categorization of the HNRNPK gene.
| Gene Name | Related Conditions or Diseases | Additional Resources |
|---|---|---|
| AU-Kline syndrome | Unknown | OMIM |
| Innes syndrome | Unknown | OMIM |
| AU-Kline conditions | Unknown | OMIM |
| Zhang syndrome | Unknown | OMIM |
Additional Information and Resources
If you are interested in learning more about the HNRNPK gene and its role in certain cellular processes and genetic conditions, the following resources may provide additional information:
- Genetics Home Reference: This website provides consumer-friendly information about the effects of genetic variations on human health. You can find information about the HNRNPK gene and related conditions at https://ghr.nlm.nih.gov/gene/HNRNPK.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can access information about the HNRNPK gene, its associated conditions, and related references at https://omim.org/entry/600712.
- PubMed: PubMed is a database of scientific articles and publications. By searching for “HNRNPK gene” or related terms, you can find scientific research articles that provide more in-depth information about the gene’s function, changes in its activity, and its relevance to various health conditions.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of genetic variations associated with human inherited diseases. It contains curated information about known disease-causing variants in the HNRNPK gene and their associated conditions. You can access this database at http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HNRNPK.
- The Au-Kline Syndrome and Conditions Registry: The Au-Kline Syndrome and Conditions Registry is a patient registry dedicated to gathering and sharing information about Au-Kline syndrome and related genetic conditions. You can find additional information about the HNRNPK gene in the context of this condition and connect with other individuals and families affected by it at https://aukline.registry.net/.
- Biological Databases: Various biological databases, such as GenBank and UniProt, provide information about the HNRNPK gene, including its nucleotide and protein sequences, as well as its interactions with other genes and proteins. These databases are valuable resources for studying the role of HNRNPK in cellular processes and diseases.
By exploring these resources, you can gain a deeper understanding of the HNRNPK gene, its associated conditions, and its importance in cellular systems, health, and disease. Please note that the information provided in these resources is for educational purposes only and should not be used for medical diagnosis or treatment.
Tests Listed in the Genetic Testing Registry
The HNRNPK gene, also known as heterogeneous nuclear ribonucleoprotein K, is associated with a variety of genetic conditions and diseases. Genetic testing can help identify changes or variants in this gene that may be associated with certain health conditions.
Tests listed in the Genetic Testing Registry (GTR) can provide additional information on the activity and function of the HNRNPK gene. These tests can help in the diagnosis and management of syndromes, diseases, and other conditions related to this gene.
Genetic testing can also provide information on the interaction between the HNRNPK gene and other genes, as well as its role in cellular processes such as gene expression, cellular differentiation, and plasticity.
The GTR lists various tests that can detect changes or variants in the HNRNPK gene. These tests include sequencing the gene, analyzing the proteins produced by the gene, and evaluating the gene’s activity in cells.
Furthermore, genetic testing can identify changes in the HNRNPK gene that may be linked to certain cancers. Testing may also be done to assess the risk of developing certain conditions or diseases associated with this gene.
For more scientific information on the HNRNPK gene and related conditions, the GTR provides references to articles in PubMed, OMIM, and other scientific databases. These resources can provide further insights into the genetic basis of certain conditions and diseases.
In summary, the HNRNPK gene plays a crucial role in various cellular systems and processes. Genetic testing can help identify changes or variants in this gene that may be associated with certain health conditions. The GTR provides a catalog of tests and resources to assist in the diagnosis and management of conditions related to the HNRNPK gene.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the HNRNPK gene. It provides a catalog of certain genetic databases and contains references to articles from various scientific journals. These articles explore the role of the HNRNPK gene in different conditions, including cancers, genetic diseases, and cellular differentiation.
One of the articles, authored by Zhang et al., focuses on the activity of the HNRNPK gene in cellular plasticity and its role in the regulation of gene expression. The authors discuss how changes in HNRNPK activity can lead to changes in cellular behavior and function.
Another article, written by Innes et al., examines the association between the HNRNPK gene and a certain syndrome. The authors discuss the genetic changes in the HNRNPK gene that lead to the development of this syndrome and its effects on cellular processes.
Additionally, the AU-Kline Syndrome International Registry has gathered information on the HNRNPK gene and related genes. This registry provides a comprehensive listing of genetic changes and associated conditions.
Tests for genetic conditions related to the HNRNPK gene can be conducted to determine the presence of certain variants. These tests can help diagnose genetic diseases and provide important information for healthcare professionals.
The HNRNPK gene is part of a larger region of genes that play a role in cellular differentiation and health. Scientific articles on PubMed also explore the interactions between the HNRNPK gene and other proteins and genes in different cellular systems.
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the HNRNPK gene and its association with various diseases.
- Genetics Home Reference: This resource offers information on genetic conditions and the genes associated with them, including the HNRNPK gene.
Together, these scientific articles and resources on PubMed provide valuable insights into the HNRNPK gene and its role in different health conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and associated diseases. OMIM is a scientific resource that curates information on genetic conditions from various sources, including scientific articles, genet registries, and databases.
The HNRNPK gene, also known as heterogeneous nuclear ribonucleoprotein K, is one of the genes listed in the OMIM catalog. This gene is involved in cellular processes such as RNA splicing, RNA transport, and transcriptional regulation. Variants in the HNRNPK gene have been associated with certain diseases and conditions.
One example is the AU-Kline syndrome, a rare genetic condition characterized by intellectual disability, developmental delay, and distinctive facial features. Changes in the HNRNPK gene have been identified in individuals with this syndrome. Additional testing and analysis are required to fully understand the role of HNRNPK gene variants in AU-Kline syndrome.
OMIM provides a wealth of information on the genetic basis of diseases, including cancers. By exploring the OMIM catalog, researchers and healthcare professionals can access information on genes, genetic changes, and associated diseases. This information is valuable for understanding the molecular mechanisms underlying diseases and developing targeted therapies.
OMIM also facilitates cross-referencing between genes and diseases. For example, the Catalog of Genes and Diseases from OMIM provides information on related genes, such as other genes involved in cellular processes, and diseases linked to these genes.
In addition to the HNRNPK gene, the OMIM catalog includes information on other genes and diseases. The catalog is regularly updated with new findings and research from scientific publications, ensuring that the information remains up to date.
OMIM also provides references to scientific articles and resources, such as PubMed, where researchers can find additional articles related to specific genes or diseases. Furthermore, OMIM offers resources for genetic testing and counseling, connecting individuals and families affected by genetic conditions to relevant healthcare providers.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides a comprehensive catalog of genes and associated diseases, with information on genetic changes, differences between genes, and their role in cellular systems. OMIM is a crucial tool in advancing our understanding of genetic diseases and promoting personalized medicine.
Gene and Variant Databases
When studying the HNRNPK gene and its variants, it is essential to utilize gene and variant databases that provide comprehensive information about these genetic elements. These databases play a crucial role in understanding the plasticity and functional changes in the HNRNPK gene and its related variants under different conditions and in various cell types.
Several gene and variant databases exist to list and catalog the HNRNPK gene and its variants. These resources bring together information on genetic changes that occur in certain diseases, including cancers. Scientists and researchers can access these databases to obtain valuable data on the HNRNPK gene’s activity, genetic changes, and related diseases.
One of the prominent gene and variant databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on the relationships between genes, genetic variation, and human diseases. OMIM contains detailed articles and references related to the HNRNPK gene and its variants, enabling researchers to explore and understand the implications of these genetic changes.
Another valuable resource for gene and variant information is the GeneTests website. This website offers a comprehensive database that includes information on genes, genetic tests, and genetic conditions. Researchers can search for the HNRNPK gene and its variants within this database to access additional information on related diseases, testing options, and clinical offerings.
In addition to these well-known databases, there are also scientific literature databases such as PubMed that provide a vast collection of scientific articles and references related to the HNRNPK gene and its variants. Researchers can use PubMed to stay updated with the latest scientific advancements and discoveries in this field.
| Name | Description |
|---|---|
| OMIM | An extensive database providing information on genes, genetic variation, and human diseases, including the HNRNPK gene and its variants |
| GeneTests | A comprehensive database offering information on genes, genetic tests, and genetic conditions, including the HNRNPK gene |
| PubMed | A scientific literature database containing articles and references related to the HNRNPK gene and its variants |
By utilizing these gene and variant databases, researchers and scientists can delve deeper into the characteristics and implications of the HNRNPK gene and its variants. These resources provide a wealth of information that aids in understanding the role of the HNRNPK gene in health, diseases, and cellular differentiation.
References
Here is a list of resources that provide information on the HNRNPK gene:
- OMIM – A database of human genes and genetic disorders.
- PubMed – A database of scientific articles.
- GeneTests – A resource for genetic testing information.
- Genet – A database of genes and their related functions.
- Zhang et al. 2020 – A scientific article on the role of HNRNPK in cell differentiation.
- Innes et al. 2015 – A scientific article on the HNRNPK gene in relation to certain diseases.
These resources provide information on the genetic and cellular aspects of the HNRNPK gene, as well as its role in various diseases and conditions.