Aliases for GRIN2B Gene
External Ids for GRIN2B Gene
Previous HGNC Symbols for GRIN2B Gene
Previous GeneCards Identifiers for GRIN2B Gene
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. [provided by RefSeq, Aug 2017]
GeneCards Summary for GRIN2B Gene
GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) is a Protein Coding gene. Diseases associated with GRIN2B include Epileptic Encephalopathy, Early Infantile, 27 and Mental Retardation, Autosomal Dominant 6. Among its related pathways are RET signaling and Long-term potentiation. GO annotations related to this gene include calcium channel activity and ionotropic glutamate receptor activity. An important paralog of this gene is GRIN2A.
UniProtKB/Swiss-Prot for GRIN2B Gene
NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity).
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 NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations.