Aliases for GRIN2A Gene
External Ids for GRIN2A Gene
Previous HGNC Symbols for GRIN2A Gene
Previous GeneCards Identifiers for GRIN2A Gene
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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GeneCards Summary for GRIN2A Gene
GRIN2A (Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A) is a Protein Coding gene. Diseases associated with GRIN2A include epilepsy, focal, with speech disorder and with or without mental retardation and landau-kleffner syndrome. Among its related pathways are Ras signaling pathway and Ras signaling pathway. GO annotations related to this gene include calcium channel activity and N-methyl-D-aspartate selective glutamate receptor activity. An important paralog of this gene is GRIN2D.
UniProtKB/Swiss-Prot for GRIN2A Gene
NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits
NMDA receptors are members of the ionotropic class of glutamate receptors, which also includes Kainate and AMPA receptors. NMDA receptors consist of NR1 subunits combined with one or more NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations including Ca2+, and at resting membrane potentials NMDA receptors are inactive due to a voltage-dependent blockade of the channel pore by Mg2+. NMDA receptor activation, which requires binding of glutamate and glycine, leads to an influx of Ca2+ into the postsynaptic region where it activates several signaling cascades, including pathways leading to the induction of long-term potentiation (LTP) and depression (LTD). NMDA receptors have a critical role in excitatory synaptic transmission and plasticity in the CNS. They govern a range of physiological conditions including neurological disorders caused by excitotoxic neuronal injury, psychiatric disorders and neuropathic pain syndromes.