GRID2

The PDZ-binding motif mediates interaction with GOPC.

Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system. Although it shares structural features with ionotropic glutamate receptors, does not bind glutamate as a primary ligand (PubMed:34936451). Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the NRX1B-CBLN1-GRID2 triad complex (PubMed:27418511). In the presence of neurexins and cerebellins, forms cation-selective channels that are proposed to be gated by glycine and D-serine (PubMed:34936451). However, recent research disputes this ligand-gated cation channel activity (PubMed:39052831). Cation-selective ion channel activity can be triggered by GRM1 in Purkinje cells (PubMed:24357660, PubMed:27276689).

Spinocerebellar ataxia, autosomal recessive, 18

SCAR18

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily.

• Postsynaptic cell membrane
• Multi-pass membrane protein

GLURD2, GRID2, GluD2, GluR delta-2 subunit

• entrezGene:2895
• omim:602368
• swissprot:O43424

Proteins

Neuroscience

113356Da