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

rs2268118 in GRIN2B gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs879253931 in GRIN2B gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27572814 2016 Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

rs10845779 in GRIN2B gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1555103971 in GRIN2B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

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

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

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

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 27572814 2016 Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

rs1555103971 in GRIN2B gene and Muscle hypotonia PMID 27605359 2016 Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

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

PMID 28377535 2017 GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

PMID 23933820 2013 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

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

PMID 23718928 2013 Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

PMID 24126926 2014 Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.

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

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23933819 2013 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 22833210 2011 Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

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

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 17357078 2007 Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

rs6488619 in GRIN2B gene and Ovarian Reserve PMID 22116950 2012 Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.

rs117578877 in GRIN2B gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs1477105 in GRIN2B gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs28621435 in GRIN2B gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs139593264 in GRIN2B gene and Waist-Hip Ratio PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs138009610 in GRIN2B gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.