Relevance to Autism

A de novo nonsense variant in the GRIA2 gene was observed in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in GRIA2 was observed in an ASD proband from a multiplex family from the ASD: Genomes to Outcome Study cohort in Yuen et al., 2017. Salpietro et al., 2019 reported heterozygous de novo GRIA2 variants in 28 unrelated patients with intellectual disability and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DDE).

Molecular Function

This gene encodes a receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. 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. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA).

External Links

References

Model Summary

PKC phosphorylation of GluR2 Ser880 is a critical event in the induction of cerebellar LTD.

References