From NCBI Gene: Epileptic encephalopathy, early infantile, 27Mental retardation, autosomal dominant 6From UniProt: Mental retardation, autosomal dominant 6 (MRD6): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:613970] A chromosomal aberrations involving GRIN2B has been found in patients with mental retardation. Translocations t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1) with a common breakpoint in 12p13.1. Epileptic encephalopathy, early infantile, 27 (EIEE27): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. [MIM:616139]

     From NCBI Gene: N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate . This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008] From UniProt: 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.

The following transcription factors affect gene expression:

• CREB
• deltaCREB
• Sp1

Tissue specificity:

Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia.

Molecular Function:

• Extracellular-Glutamate-Gated Ion Channel Activity
• Glycine Binding
• Nmda Glutamate Receptor Activity
• Ras Guanyl-Nucleotide Exchange Factor Activity
• Zinc Ion Binding

Biological Processes:

• Chemical Synaptic Transmission
• Ephrin Receptor Signaling Pathway
• Glutamate Receptor Signaling Pathway
• Learning Or Memory
• Mapk Cascade
• Response To Ethanol
• Transport

Drug Bank:

• Atomoxetine
• Pethidine
• Acetylcysteine
• Felbamate
• Gabapentin
• Haloperidol
• Ketobemidone
• Memantine
• Milnacipran
• Pentobarbital
• Phenobarbital
• Secobarbital
• Acamprosate
• Ifenprodil