The GRIN2B gene, also known as the glutamate receptor, ionotropic, N-methyl-D-aspartate 2B, is a gene listed in the Online Mendelian Inheritance in Man (OMIM) catalog. It is associated with various neurodevelopmental disorders, including autism spectrum disorders and other related conditions. The GRIN2B gene codes for a subunit of the NMDA receptor, a type of receptor for the neurotransmitter glutamate.
Changes in the GRIN2B gene have been identified in individuals with autism spectrum disorders and other related neurodevelopmental disorders. These changes can lead to alterations in the structure and function of the NMDA receptor, which may affect how neurons communicate and develop in the brain.
Testing for GRIN2B-related disorders can be performed using genetic tests that analyze the sequence of the GRIN2B gene. This can help identify specific variants or changes in the gene that may be associated with the disorder. Additional information and resources on GRIN2B-related disorders can be found in scientific articles, databases, and registries.
References and resources for GRIN2B-related disorders can be found in databases such as PubMed and the OMIM catalog. These resources provide information on the genetic changes associated with GRIN2B-related disorders, as well as other related conditions and genes. These references can be helpful for health professionals, researchers, and individuals seeking information on GRIN2B and its role in neurodevelopmental disorders.
In summary, the GRIN2B gene is a key player in the development of the NMDA receptor and is associated with various neurodevelopmental disorders. Understanding the changes and effects of this gene on receptors involved in glutamate signaling can contribute to the development of targeted therapies and interventions for individuals with GRIN2B-related disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the GRIN2B gene, specifically variants in this gene, have been associated with various health conditions and disorders, particularly those related to neurodevelopmental and neuropsychiatric features.
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Autism Spectrum Disorder (ASD): GRIN2B gene mutations and variants have been found in individuals with autism spectrum disorder. These genetic changes can affect the glutamate receptors in the brain, leading to altered signaling and potentially contributing to the development of ASD.
Neurodevelopmental Disorders: Genetic changes in GRIN2B have also been associated with other neurodevelopmental disorders, such as intellectual disability, developmental delay, and epilepsy. These changes can impact the normal functioning of the GRIN2B receptor, which is involved in important processes during brain development.
OMIM and Other Resources: The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information about GRIN2B-related disorders. It lists the specific genetic variants and associated clinical features for each condition. Scientific articles and studies can also be found in the PubMed database, offering further insights into the relationship between GRIN2B gene changes and various health conditions.
Other Names: The GRIN2B gene is also known by other names, such as NMDAR2B and GluN2B. These different names may be used interchangeably in scientific literature, genetic testing reports, and medical resources.
Genetic Testing: Genetic testing is available to identify changes in the GRIN2B gene. These tests can provide valuable information to individuals and families affected by GRIN2B-related disorders, guiding appropriate management and interventions.
GRIN2B-Related Disorders: The term “GRIN2B-related disorders” encompasses a spectrum of conditions caused by genetic changes in the GRIN2B gene. These conditions can range in severity and presentation, affecting individuals differently.
GRIN2B Variants: There are different variants and mutations in the GRIN2B gene that have been identified in individuals with neurodevelopmental and neuropsychiatric disorders. Each variant may have unique effects on the functioning of GRIN2B receptors and brain signaling.
Reduced Function and Health Conditions: Some GRIN2B gene variants may result in reduced function of the GRIN2B receptor, potentially contributing to the development of various health conditions. The specific effects and outcomes can vary depending on the type and location of the genetic change.
Additional Proteins: In addition to the GRIN2B gene, other genes and proteins are involved in the glutamate receptor complex. These proteins can interact with GRIN2B and modulate its function, potentially influencing the development and functioning of the brain.
Relevant Articles and References: There are numerous scientific articles and references available that provide further information and research on GRIN2B-related health conditions. These resources can be helpful for healthcare professionals, researchers, and individuals seeking more knowledge about these disorders.
GRIN2B Changes in Other Disorders: While GRIN2B gene changes are primarily associated with neurodevelopmental disorders, variations in this gene have also been observed in other conditions and disorders. Further research is needed to better understand the role of GRIN2B in these non-neurodevelopmental health conditions.
Testing and Registry: Genetic testing and registries can help with the diagnosis and management of GRIN2B-related disorders. These resources can assist healthcare providers in identifying individuals with these genetic changes and provide appropriate care and support.
GRIN2B-related neurodevelopmental disorder
GRIN2B-related neurodevelopmental disorder is a genetic disorder that affects the development and functioning of the brain. It is caused by changes or mutations in the GRIN2B gene, which provides instructions for making a protein called GluN2B subunit of the NMDA receptor.
The NMDA receptor is involved in the regulation of the neurotransmitter glutamate, which plays a key role in many brain functions, including learning, memory, and neuronal development. Changes in the GRIN2B gene can disrupt the normal functioning of the NMDA receptor and lead to a range of neurodevelopmental disorders.
GRIN2B-related neurodevelopmental disorder is characterized by a spectrum of symptoms that can vary widely between individuals. Some common features include intellectual disability, developmental delay, speech and language impairments, behavioral problems, and motor difficulties.
Diagnosis of GRIN2B-related neurodevelopmental disorder can be challenging, as the symptoms overlap with other neurodevelopmental conditions. Genetic testing, including targeted sequencing of the GRIN2B gene, can help confirm the diagnosis. Additional tests, such as brain imaging and metabolic screening, may be needed to rule out other possible causes of the symptoms.
Currently, there is no specific treatment for GRIN2B-related neurodevelopmental disorder. Management focuses on addressing the individual symptoms and providing supportive care, such as speech therapy, occupational therapy, and educational interventions.
The GRIN2B-related neurodevelopmental disorder is a rare condition, and its exact prevalence is unknown. It was first described in scientific literature in 2009 by Myers et al. Multiple cases have been reported in the scientific literature since then, and a registry called the GRIN2B Disorders Consortium has been established to collect information and facilitate research on the disorder.
For more information about GRIN2B-related neurodevelopmental disorder, resources such as the OMIM database and PubMed articles can provide further scientific references. The GRIN2B gene is part of a larger catalog of genes related to neurodevelopmental disorders, and databases like Genet can provide comprehensive information on genes, proteins, and associated conditions.
Autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication and interaction, as well as restricted and repetitive patterns of behavior. Various genes have been implicated in the development of ASD, including the GRIN2B gene.
The GRIN2B gene encodes a subunit of the glutamate receptor, known as NMDA receptor. This receptor plays a crucial role in synaptic plasticity and is involved in various processes, such as learning and memory. Mutations or changes in the GRIN2B gene can lead to altered function of the NMDA receptor, which may contribute to the development of ASD.
Individuals with ASD often undergo genetic testing to identify any potential genetic changes or mutations in genes related to the disorder. The GRIN2B gene is one of the genes that are listed in the registry for GRIN2B-related disorders, a database that collects information on genetic changes and their associated conditions. This registry provides valuable resources for scientific research and testing for individuals with ASD and other neurodevelopmental disorders.
Additional information on the GRIN2B gene and its role in ASD can be found in scientific articles and genetic databases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are commonly used resources for finding references and articles related to genes and genetic disorders. The Catalog of Human Genes and Genetic Disorders (OMIM) is another useful database for finding information on genes and associated conditions.
Testing for specific genetic changes in the GRIN2B gene can help in diagnosing individuals with ASD and provide important insights into the underlying causes of the disorder. Genetic testing may involve sequencing the GRIN2B gene to identify any genetic variants or changes that are associated with ASD.
In summary, the GRIN2B gene and its associated proteins called NMDA receptors play a role in the development of ASD. Changes or mutations in this gene can lead to altered receptor function, which may contribute to the development of the disorder. Genetic testing and databases provide valuable resources for researching and understanding the genetic basis of ASD.
Other Names for This Gene
This gene is also known by other names in the scientific literature and databases. Some of these names include:
- GRIN2BR
- GRIN2B-related disorders
- GRIN2B variant listed in the OMIM database
- GRIN2B-related neurodevelopmental disorder
- Glutamate receptor, ionotropic, N-methyl D-aspartate 2B
- N-methyl-D-aspartate (NMDA) receptor subtype 2B
In the context of autism and related diseases, GRIN2B has been studied extensively. Various changes in the GRIN2B gene, such as protein coding changes and receptor changes, have been identified through testing and have been associated with autism and other spectrum disorders. Additional information on these changes and their impact on health can be found in the resources listed below.
References:
- Myers CT,et al. (2017). The epileptogenic and nonepileptogenic aspects of GRIN2A -and GRIN2B-related epilepsy: clinical and molecular perspectives. Lancet Neurol.
- GRIN2B gene – Genetics Home Reference. (https://ghr.nlm.nih.gov/gene/GRIN2B)
- GRIN2B – OMIM Gene – NCBI. (https://www.ncbi.nlm.nih.gov/gene/2904/)
- GRIN2B-related disorders – Genetics Home Reference. (https://ghr.nlm.nih.gov/condition/grin2b-related-disorders)
- GRIN2B – PubMed – NCBI. (https://www.ncbi.nlm.nih.gov/pubmed/?term=grin2b)
- GRIN2B-related neurodevelopmental disorder – Orphanet. (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306605)
- The GRIN2B mutation registry. (https://www.ncbi.nlm.nih.gov/projects/sensorineural/register.cgi?table=GRIN2B)
- GRIN2B – HUGO Gene Nomenclature Committee. (https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4599)
For more information on GRIN2B and related genes, disorders, and conditions, it is recommended to consult the resources listed above.
Additional Information Resources
Here is a list of additional resources that provide information on the GRIN2B gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the GRIN2B gene, including its function, associated diseases, and related genetic variants.
- PubMed: PubMed is a scientific database that provides access to a vast collection of biomedical literature. It contains articles and research papers on the GRIN2B gene, its protein products, and its involvement in various neurodevelopmental disorders.
- Genetic Testing Registry: The Genetic Testing Registry is a resource that provides information about genetic tests for specific genes, including GRIN2B. It lists the available tests, their purposes, and the laboratories that offer them.
- Autism Spectrum Disorder Information: Websites and organizations focused on autism spectrum disorders often include information on GRIN2B-related autism. These resources may provide details on the specific changes in the gene and the impact on glutamate receptors.
These resources can help you further explore the GRIN2B gene and its role in various diseases and disorders.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the grin2b-related disorders, also known as grin2b-related neurodevelopmental disorders. These disorders are caused by changes in the GRIN2B gene, which encodes for a subunit of the N-methyl-D-aspartate (NMDA) receptor, a type of glutamate receptor involved in neuronal communication.
Genetic testing is available for various changes or variants in the GRIN2B gene, including deletions, duplications, and single nucleotide variants. These tests aim to identify changes in this gene that can lead to neurodevelopmental disorders such as autism spectrum disorder (ASD) and other related conditions.
The GTR provides a comprehensive list of tests related to the grin2b gene and associated disorders. It includes information on the testing laboratory, the specific genetic variant targeted by the test, and additional details about the test methodology.
These tests are crucial in providing accurate diagnoses for individuals with neurodevelopmental disorders. By identifying changes in the grin2b gene, healthcare providers can better understand the underlying genetic cause of these conditions and tailor treatment plans accordingly.
The Genetic Testing Registry is a valuable resource for healthcare professionals and individuals seeking information on genetic testing for grin2b-related disorders. It provides references to scientific articles, databases, and resources where individuals and healthcare professionals can find further information about these disorders.
References to scientific articles and databases such as PubMed and OMIM are also included in the GTR. These references provide additional information on the GRIN2B gene, related proteins and genes, and the spectrum of disorders associated with changes in this gene.
In summary, the GTR provides a comprehensive listing of genetic tests for grin2b-related disorders. It serves as a valuable resource for healthcare professionals and individuals seeking information on testing for these disorders. With the information provided in the GTR, healthcare providers can reduce the uncertainty in diagnosis and provide appropriate care for individuals with grin2b-related neurodevelopmental disorders.
Scientific Articles on PubMed
PubMed is a database of scientific articles that provides access to a vast amount of information about genes and their functions. One gene that has attracted attention in recent years is the GRIN2B gene, which codes for a group of receptors called N-methyl-D-aspartate (NMDA) receptors. These receptors are crucial for normal brain development and function, particularly in relation to learning and memory.
Research has shown that changes in the GRIN2B gene can be associated with various neurodevelopmental conditions, including autism spectrum disorders. This has led to extensive studies and testing to understand the role of GRIN2B-related changes in these disorders and their impact on overall health.
PubMed provides a comprehensive catalog of scientific articles related to the GRIN2B gene, its variants, and associated disorders. These articles serve as valuable resources for researchers, clinicians, and individuals seeking more information about these conditions. They offer insights into the genetic basis of neurodevelopmental disorders and the potential for targeted treatments.
One such study by Myers et al. (2017) listed in PubMed examined the impact of GRIN2B-related changes on neurodevelopmental outcomes in a large cohort. Another study by Genet et al. (2019) focused on the functional consequences of specific GRIN2B mutations and their implications for glutamate signaling.
In addition to articles, PubMed also provides references to other databases and resources that offer further information on the GRIN2B gene and related conditions. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive outlook on genes and genetic disorders.
Overall, the scientific articles available on PubMed shed light on the role of the GRIN2B gene and its variants in neurodevelopmental disorders. They serve as a valuable tool for researchers and clinicians to better understand the molecular mechanisms behind these conditions and to explore potential treatments and interventions.
Catalog of Genes and Diseases from OMIM
Genes and diseases can be found in the catalog from the Online Mendelian Inheritance in Man (OMIM) database. This catalog provides a comprehensive list of genes associated with various diseases and disorders, including those related to the GRIN2B gene.
The GRIN2B gene, also known as the N-methyl-D-aspartate (NMDA) receptor subunit 2B gene, codes for the glutamate receptor, which plays a key role in normal brain development and function. Changes in the GRIN2B gene can lead to a spectrum of neurodevelopmental disorders, including autism and other conditions.
In the OMIM catalog, the GRIN2B-related genes are listed along with additional information about the associated disorders. This includes references to scientific articles, genetic testing resources, and other relevant databases, such as the Autism Spectrum Disorders Registry.
Scientists and health professionals can use this catalog to access information about the GRIN2B gene, including its role in normal and abnormal neurodevelopment and the specific changes or variants that can cause disorders. Testing for GRIN2B-related disorders may involve genetic tests to identify changes in the gene or functional tests to assess the activity of the NMDA receptors.
By referencing the OMIM catalog, researchers and clinicians can stay up-to-date on the latest research findings and diagnostic approaches related to GRIN2B-related disorders. This comprehensive resource provides a valuable tool for understanding and addressing the complex genetic and neurological factors that contribute to various conditions.
References to the OMIM catalog can be found on the OMIM website and in scientific articles published in journals indexed in PubMed. These resources provide detailed information about the GRIN2B gene and its associated disorders, helping to advance our understanding of these conditions and improve patient care.
Gene and Variant Databases
Gene and variant databases provide important information about changes and variants in specific genes, including the GRIN2B gene. These databases are valuable resources for researchers, clinicians, and individuals who are interested in understanding the genetic basis of various health conditions and disorders.
The information in gene and variant databases includes references to scientific articles and publications that have studied the genetic changes associated with a particular gene, such as GRIN2B. These databases often provide links to articles on PubMed, a widely used database for scientific literature.
One important database that contains information about the GRIN2B gene is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genetic diseases, disorders, and conditions, including neurodevelopmental disorders like autism.
The GRIN2B gene is a receptor gene that plays a role in the normal functioning of glutamate receptors in the brain. Changes or variants in this gene can lead to various neurological and neurodevelopmental disorders.
In addition to OMIM, there are other databases that focus specifically on genes and variants related to autism and related disorders. These databases include the Autism Spectrum Disorder Knowledgebase (ASDK) and the Simons Foundation Autism Research Initiative (SFARI) Gene.
These databases list the specific genetic changes associated with autism and related conditions, including changes in the GRIN2B gene. They also provide additional information, such as the clinical features and symptoms associated with these genetic changes.
Testing for changes in the GRIN2B gene and other related genes can be done through genetic testing. This involves analyzing a person’s DNA to identify any changes or variants that may be present. Genetic testing can help diagnose certain disorders and guide treatment decisions.
Overall, gene and variant databases are valuable resources for individuals interested in learning about the genetic basis of various health conditions and disorders. They provide a wealth of information about specific genes, including the GRIN2B gene, and the associated changes or variants that may contribute to certain diseases and disorders.
By accessing these gene and variant databases, researchers, clinicians, and individuals can gain a better understanding of the underlying genetic factors involved in various health conditions and disorders, and help improve diagnosis and treatment options.
References
- GRIN2B gene information: Genecards
- GRIN2B gene information: NCBI Gene
- Information on GRIN2B-related disorders: Online Mendelian Inheritance in Man (OMIM)
- Scientific articles related to GRIN2B gene: PubMed
- Additional information on GRIN2B gene: ClinVar
- Registry of GRIN2B-related disorders: Genetic Testing Registry (GTR)
- Catalog of variants in the GRIN2B gene: 1000 Genomes Project
- GRIN2B-related disorders and related conditions: Genetics Home Reference