| Entrez Gene ID |
2903 (NCBI Gene) |
| Official Gene Symbol |
GRIN2A (GeneCards) |
| Number of variants in GRIN2A in this database |
66 (view all the variants) |
| Full name |
glutamate ionotropic receptor NMDA type subunit 2A |
| Band |
16p13.2 |
| Other IDs |
Vega:
OTTHUMG00000129721
OMIM:
138253
HGNC:
HGNC:4585
Ensembl:
ENSG00000183454
|
| Other names |
LKS,
EPND,
FESD,
NR2A,
GlN2A,
NMDAR2A
|
| 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. [provided by RefSeq, May 2014] |