Aliases for GRIK2 Gene
External Ids for GRIK2 Gene
Previous HGNC Symbols for GRIK2 Gene
Previous GeneCards Identifiers for GRIK2 Gene
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq, Jul 2008]
GeneCards Summary for GRIK2 Gene
GRIK2 (Glutamate Receptor, Ionotropic, Kainate 2) is a Protein Coding gene. Diseases associated with GRIK2 include autosomal recessive non-syndromic intellectual disability and juvenile absence epilepsy. Among its related pathways are CREB Pathway and CREB Pathway. GO annotations related to this gene include extracellular-glutamate-gated ion channel activity and kainate selective glutamate receptor activity. An important paralog of this gene is GRID2.
UniProtKB/Swiss-Prot for GRIK2 Gene
Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).
Kainate receptors are members of the ionotropic class of glutamate receptors, which also includes NMDA and AMPA receptors. Kainate receptors have been identified both pre- and post-synaptically. The receptors contribute to excitatory postsynaptic currents in many regions of the CNS and play a role in short- and long-term synaptic plasticity. Kainate receptors consist of GluR5-7 and KA1-2 subunits. Each subunit has an extracellular N-terminus, a cytoplasmic C-terminus, three membrane-spanning segments and a p-loop that dips into the membrane from the cytoplasmic face to form the pore.