Recombinant Human Glutamate receptor delta-2 subunit (GRID2), partial

1. Report on a consanguineous family with autosomal recessive childhood onset of cerebellar ataxia and delayed psychomotor development. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein. PMID: 29207948
2. GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism. PMID: 27019035
3. Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium. PMID: 26905411
4. findings suggest a possible role of GRID2 in the susceptibility to develop mevalonate kinase deficiency. GRID2 gene associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with recurrent fever. PMID: 25146332
5. We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina. PMID: 25122145
6. GRID2 point mutations: cerebellar ataxia is the core phenotype, but with variable severity ranging from very mild adult-onset to congenital-onset linked to both the heterozygous and homozygous state of the variant, and the position of the mutation. PMID: 25841024
7. GluD2 gating is triggered by type 1 metabotropic glutamate receptors. PMID: 24357660
8. GRID2 mutations are associated with a recessive syndrome causing cerebellar ataxia and eye movement abnormalities. PMID: 24078737
9. Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers PMID: 23512105
10. Glutamate receptor delta2 is involved in a common mechanism that restricts the number of synaptic AMPA receptors at parallel fiber synapses in cerebellar Purkinje cells. PMID: 21368048
11. Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin. PMID: 17027646
12. The carboxy terminus of transgenic GluRdelta2 conveys the signal(s) necessary for long-term depression induction and motor learning. PMID: 18256267

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HGNC: 4576

OMIM: 602368

KEGG: hsa:2895

STRING: 9606.ENSP00000282020

UniGene: Hs.162727