Glutamate receptor s are the predominant excitatory neurotransmitter receptor s in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptor s, 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 cognitive disability. [provided by RefSeq, Jul 2 008]
Forensic Context
A study in humans demonstrated that the GRIK2 exhibited differential expression in the cerebellum, mediodorsal nucleus of the thalamus, and striatum compared to other brain regions, and its expression in the hippocampus showed a nominally significant difference between controls and substance-exposed groups, though this did not survive FDR correction [Enoch et al. DOI:10.1111/Gbb.12179]. In mice selectively bred for ethanol preference, the GRIK2 was identified as part of a group of differentially wired genes associated with neuron part in the nucleus accumbens shell [Colville et al. DOI:10.1111/Gbb.12367].