GRIN2B (Entrez ID: 2904)

Entrez Gene ID 2904
Official Gene Symbol GRIN2B (GeneCards)
Full name glutamate ionotropic receptor NMDA type subunit 2B
Location 12p13.1
Other ids Vega : OTTHUMG00000137373
MIM : 138252
HGNC : HGNC:4586
Ensembl : ENSG00000273079
Other names NR3, MRD6, NR2B, hNR3, EIEE27, GlN2B, NMDAR2B
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. [provided by RefSeq, Aug 2017]

Variants

Found 13 variants in this database.