Gene: LOC105371077

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GRIN2A

Alternate names for this Gene: EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A

Gene Summary: This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

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

Type of Gene: protein-coding

rs1555488144 in LOC105371077;GRIN2A gene and EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION PMID 23933820 2013 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

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

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

PMID 24903190 2014 Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

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

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

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

PMID 28126851 2017 Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.

PMID 24504326 2014 Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

PMID 28182669 2017 A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

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

rs1439688451 in LOC105371077;GRIN2A gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.