GRIN2B Antibodies

Glutamate receptor ionotropic, NMDA 2B (GRIN2B)

Part of NMDA receptor complexes that serve as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851).

Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). In concert with DAPK1 in extrasynaptic sites, functions as a central mediator for stroke damage.

Gene Information

Human
Gene Name:	GRIN2B
Uniprot:	Q13224
Entrez:	2904

Family

Belongs to:
glutamate-gated ion channel (TC 1.A.10.1) family

Alternative Names

glutamate [NMDA] receptor subunit epsilon-2; glutamate receptor subunit epsilon-2; glutamate receptor, ionotropic, N-methyl D-aspartate 2B; hNR3; MGC142180; NMDAR2BMGC142178; N-methyl D-aspartate receptor subtype 2B; N-methyl-D-aspartate receptor subunit 3; NR2B; NR3

Molecular Weight

Mass (kDA):
166.367 kDA

Genomic Context

Human
Location:	12p13.1
Sequence:	12; NC_000012.12 (13537337..13982012, complement)

Tissue Specificity

Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia.

Subcellular Localizations

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Late endosome. Lysosome.

Diseases

• Schizophrenia
• Bipolar Disorder
• Mental Disorders
• Autistic Disorder
• Alzheimer's Disease
• Cholangiocarcinoma
• Autism Spectrum Disorders
• Malignant Neoplasms
• Neoplasms
• Huntington Disease
• 5,10-methylenetetrahydrofolate Reductase Deficiency
• Psychotic Disorders

• Nervousness
• Parkinson Disease
• Obsessive-compulsive Disorder
• Osteochondritis Dissecans
• Epilepsy
• Child Development Disorders, Pervasive
• Dysequilibrium Syndrome

Interacting Proteins

• CAMK2A
• DLG1
• Dlg3
• DLG4
• Dlg4

Pathways

• Pathogenesis
• Methylation
• Dna Methylation
• Synaptic Transmission
• Brain Development
• Cognition
• Translation
• Localization
• Short-term Memory
• Cell Death
• Cell Adhesion
• Transport
• Gene Silencing

• Habituation
• Myelination
• Protein Glycosylation
• Regulation Of Histone Acetylation
• Cell Cycle
• Histone Acetylation
• Long-term Memory

PTMs

• Methylation
• Reduction

• Phosphorylation
• Glycosylation

• Acetylation

Research Areas

• Autophagy
• Neurodegeneration
• Neuroendocrinology
• Neuronal Cell Markers
• Neuroscience

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/GRIN2B

Best Uses Of The GRIN2B Marker

GRIN2B is a human-made protein used for annotation of genes. The GRIN2B gene marker has many applications, including the annotation of genes that aren't known in function. This article will explore the functions of GRIN2B for this specific protein. It is used in a variety applications and is available to any scientist around the globe. To read more, continue reading below.

GRIN2B is an human protein

GRIN2B is an human gene located in chromosome 12p13.1. This variation is known as a "chromosome translocation". It can occur at random or spontaneously, or even in both parents. While parents could transmit the disorder to their children, the majority of cases are de novo. The affected chromosomes contain the gene, and it's found in the sperm and egg DNA.

Other gene-disease associations, including those associated with GRIN2B These associations have been discovered in addition to genome-wide studies. Using a database such as Encode Gene Expression Profiles, researchers can discover diseases associated with this gene. To identify diseases associated to this gene, researchers can also use text mining of GWAS publications. DrugBank Drug Targets have been identified that interact with GRIN2B protein.

Multiple people with autism spectrum disorders have been discovered as having GRIN2B mutations. One person with a GRIN2B gene mutation was identified in a thorough study of 20 autism spectrum disorder patients. He had a full-scale IQ of 63 and had hyperactivity symptoms. A database of 2,500 participants discovered three additional de novo mutations in GRIN2B thought to be protein-truncating. However, no detailed clinical data are available for these mutations.

GRIN2B mutations are linked to Parkinson's disease, schizophrenia bipolar disorder, and early epileptic encephalopathy of infants. Additionally, a deletion of GRIN2B triggers early epileptic encephalopathy . It is also the cause of schizophrenia. Intellectual impairment can also be caused by GRIN2B mutations. There are many drug trials in progress to cure the GRIN2B-related disorders.

Whole-exome sequencing blends the results of over 10,000 patients to provide an accurate genetic-based disease association study. This technology has led to the discovery of novel ASD risk genes, such as GRIN2B. The results of this research suggest that genetic control could play a role in modifying the risk of developing autism. GRIN2B, a human protein plays a significant role in autism spectrum disorders.

The N-methyl-D–aspartate receptor subtype IIB encoded by the gene GRIN2B. Several neurological disorders, including dyslexia or schizophrenia are related to abnormalities in this gene. Similar to bipolar disorder Huntington disease and Huntington syndrome, GRIN2B mutations are also linked to these disorders. The gene product could be used as a biomarker for many types of diseases. This gene is a part of the calcium/calmodulin-dependent kinase 2 signaling pathway.

There are a variety of ways to find the GRIN2B mutation in various cell types. TargetScan Predicted Nonconserved Targets for MicroRNAs predicts the expression levels of microRNAs and miRNAs that determine GRIN2B gene activity. The TCGA Signatures Of Differentially Expressed Genes for Tumors database analyzes tissue samples to determine GRIN2B gene activity. Similar to the Signatures of Differentially Expressed Tumors Database TISSUES Curated protein expression evidence scores identify tissues that have high levels of GRIN2B.

GRIN2B is a gene in humans that provides instructions for the creation of the GluN2B protein. This protein is found in neurons in the brain in the early stages of development prior to birth and is part of the NMDA receptor complex. The ion channel family is comprised of various combinations of proteins. They play an important part in the regulation of calcium and sodium channels in nerve cells. If you are experiencing any issues with the NMDA receptor, contact your physician.

It is used to determine genes with no known function.

GRIN2B is a gene that is commonly used to mark genes with unclear functions. Its location and the type of mutation may provide information about the nature of the mutation. Genetic counselors can assist parents understand the implications of a mutation. Certain changes to the gene are tolerated for example, in the region that is at the end of the gene.

The GRIN2B gene is located in the genome of 400 kb DNA. It has 13 exons. Exons 2 & 4 contain the protein information. Its subunits are identified in a wide range of developmental disorders. It is believed that GRIN2B subunits are responsible for infantile spasms, West syndrome, and other developmental disorders.

The GRIN2B gene has been implicated in a myriad of disorders, including schizophrenia, autism and neurodevelopmental disorders. Numerous variants of GRIN2B have been associated with different kinds of phenotypes. Some have even been found in patients suffering from psychiatric conditions. GRIN2B plays a crucial role in the normal neuronal development as it also plays crucial roles in learning and memory.

Scientists have discovered that GRIN2B plays a part in neurodevelopmental disorders. The majority of people with this disorder have delayed motor skills and intellectual disabilities. Some sufferers do not develop speech. They also suffer from weakness in muscle tone, which can contribute to motor skill problems. Some people suffering from this condition may also experience abnormal stiffness of the muscles. As a result, they may experience difficulty eating and moving.

The GRIN2B gene has been linked with a myriad of neurodevelopmental conditions, including autism spectrum disorder and recurrent seizures. Individuals with GRIN2B gene mutations are more prone to suffer from dystonic movement or delayed speech. They also experience a lack of social interaction. Many of the symptoms are similar to the ones caused by tubulins. For a definitive diagnosis, however molecular genetic testing will be necessary.

The mutant GRIN2B gene is altered and can cause impairment to NMDA and MET signaling. It is believed to be involved in cell proliferation and may be involved in lopmental disease. It is important to note that GRIN2B gene expression is only observed in neuronal RNA-sequencing and cannot be determined by its own mRNA expression alone.

Many people with autism carry GRIN2B mutations. The Autism Sequencing Consortium, for example discovered an abundance of rare non-synonymous GRIN2B gene mutations in cases of schizophrenia and autism. However there was no evidence of de novo mutations as well as low rates of mutation in controls that supported the potential significance of GRIN2B in determining risk for autism.

GRIN2B plays various roles in the central nervous system. It is an essential component of cortical synapsis that occurs rapidly during late embryogenesis as well as early postnatal developmental. Knockout mice expressing GRIN2B can cause fatal effects on neonates. Overexpression of GRIN2B enhances hippocampal long-term potentiation and spatial memory performance and hippocampal long-term Potentiation.