Gene: GRIN2B

Alternate names for this Gene: DEE27|EIEE27|GluN2B|MRD6|NMDAR2B|NR2B|NR3|hNR3

Gene Summary: This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.1

Description of this Gene: glutamate ionotropic receptor NMDA type subunit 2B

Type of Gene: protein-coding

Gene: LOC105369668

Alternate names for this Gene:

Gene Summary:

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rs672601378 in GRIN2B;LOC105369668 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24272827 2014 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

rs397514555 in GRIN2B;LOC105369668 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24863970 2014 Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28095420 2017 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.