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 a family of glutamate receptor s that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate ( AMPA ), and function as ligand-activated cation channels. These channels are assembled from 4 related subunit s, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
Forensic Context
A study in mice demonstrated that the GRIA2 is a protein-coding gene identified as a differential wiring (DW) gene in the prefrontal cortex, enriched in synapse part annotation, and is also part of a common cosplicing network of glutamatergic synapse genes [Hitzemann et al. DOI:10.3390/brainsci9070155]. A review of human and rodent studies reported that miR-181a directly and negatively regulates the expression of the human glutamate receptor gene GRIA2 in the plasma of patients with methamphetamine use disorder [Gu et al. DOI:10.1007/s11010-021-04160-y]. A study in humans demonstrated that the GRIA2 was down-regulated in post-mortem brain tissues from individuals with chronic traumatic encephalopathy (CTE), CTE with Alzheimer's disease (CTE/AD), and Alzheimer's disease (AD) compared to normal subjects, as identified through transcriptome sequencing and differential expression analysis [Cho et al. DOI:10.1038/s41598-020-65916-y].