Anti-GRIK2

GRIK2 (Glutamate Ionotropic Receptor Kainate Type Subunit 2) is a Protein Coding gene. Diseases associated with GRIK2 include Autosomal Recessive Non-Syndromic Intellectual Disability and Spinocerebellar Ataxia 11. Among its related pathways are CREB Pathway and Presynaptic function of Kainate receptors. GO annotations related to this gene include protein homodimerization activity and ubiquitin protein ligase binding. An important paralog of this gene is GRIK3.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. Protein function: 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 (PubMed:28180184). May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2. [The UniProt Consortium]