GRIN2A Antibody

1. GRIN2A rare deleterious and loss of function variants are specifically associated with typical and atypical Rolandic epilepsy. PMID: 29358611
2. GRIN2A mutation is associated with epilepsy-aphasia spectrum disorders but with a relatively low rate. PMID: 29896722
3. Lifetime mood disorder emerged as a more significant factor for suicidal ideation in systemic lupus erythematosus compared with NR2A gene polymorphism main and interaction effects. PMID: 29161964
4. The results of this study GRIN2A mutation is a genetic cause in less than 11% patients with Landau-Kleffner syndrome or atypical benign partial epilepsy. PMID: 29056244
5. Mutations P79R, C231Y, G483R and M705V caused a significant reduction in glutamate and glycine agonist potency, whilst D731N was non-responsive. These mutants, along with E714K, also showed significantly decreased total protein levels and trafficking to the cell surface, whilst C436R was not trafficked at all. PMID: 28242877
6. This review showed that GRIN2A associate with Obsessive-compulsive disorder. PMID: 28608743
7. This study demonstrates that GRIN2A mutations in melanoma cause heterogenous effects but some may be oncogenic. PMID: 27659111
8. data indicate that children with epilepsy due to pathogenic GRIN2A mutations present with different clinical phenotypes and a spectrum of seizure types in the context of a pharmacoresistant epilepsy. PMID: 28109652
9. a de novo missense mutation in the GRIN2A gene in a patient with childhood focal epilepsy and acquired epileptic aphasia. The mutant decreases NMDAR activation suggesting NMDAR hypofunction may contribute to the epilepsy pathogenesis. PMID: 28182669
10. genetic association studies in population in China: Data suggest that one SNP in GRIN2A (rs2650429; but not rs6497540 or rs9302415) is associated with lead-induced neurotoxicity; in this case-control study, cases were lead-exposed workers from battery plants. Lead-exposed individuals have lower serum GRIN2A levels compared with controls; lead decreases GRIN2A expression levels in HEK293 cell. PMID: 27230353
11. Two adjacent phenylalanines in the NMDA receptor GluN2A subunit M3 domain interactively regulate alcohol sensitivity and ion channel gating. PMID: 27876530
12. The GRIN2A genotype was not associated with the rate of clinical progression of PD in the placebo group. PMID: 28320167
13. most rare variants in GluN2A were associated with epilepsy, whereas GluN2B variants were associated with intellectual disability with or without seizures PMID: 27839871
14. the gain-of-function M817V mutation causes overactivation of NMDAR and drives neuronal hyperexcitability. PMID: 28126851
15. To determine genetic variability within the N-methyl-D-aspartate receptor 2A sub-unit (GRIN2A) gene promoter and its association with concussion recovery time. PMID: 26502998
16. Findings suggest that mutations in GRIN2A preferentially are involved in genetic variance of pediatric idiopathic generalized epilepsy and do not contribute significantly to either adult focal epilepsies as temporal lobe epilepsy or generalized epilepsies PMID: 26220384
17. Based on large, well-characterized datasets independent from the original study, our results are not in favor of an interaction between caffeinated coffee consumption and GRIN2A rs4998386 for Parkinson disease risk PMID: 25412286
18. NMDARs have a dual role during erythropoiesis, supporting survival of polychromatic erythroblasts and contributing to the Ca(2+) homeostasis from the orthochromatic erythroblast stage to circulating red blood cells. PMID: 25788577
19. GRIN2A (GT)21 may play a significant role in the etiology of schizophrenia among the Chinese Han population of Shaanxi. PMID: 25958346
20. GRIN2A gene polymorphisms confer susceptibility to heroin addiction. PMID: 25366762
21. Dysarthria and dyspraxia are found in individuals with GRIN2A mutations, often in the setting of epilepsy-aphasia syndromes. The speech phenotype may occur in the absence of a seizure disorder, reinforcing the role for GRIN2A in motor speech function. PMID: 25596506
22. The reported association of a single nucleotide polymorphism, GRIN2A_rs4998386, and its interaction with caffeine intake with PD in Sweden, was replicated. PMID: 24915238
23. We demonstrate the functional importance of GRIN2A mutations in melanoma and the significance that ionotropic glutamate receptor signaling has in malignant melanoma. PMID: 24739903
24. study describes two children with a GRIN2A mutation and epilepsy, with one having a microdeletion on chromosome 16p13 PMID: 24125812
25. Array comparative genomic hybridization (aCGH) is used to confirm genes for epileptic and other neurodevelopmental disorders, including GRIN2A and proline-rich transmembrane protein (PRRT), both found in rolandic epilepsy. PMID: 24372385
26. A possible role for GRIN2A polymorphisms in heroin addiction. PMID: 23940648
27. The sigma-1 receptor was coisolated with GluN1 receptor subunit but not with the GluN2A subunit. PMID: 24227730
28. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. PMID: 23933818
29. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. PMID: 23933819
30. GluN2A(F636) plays an important role in both channel function and ethanol inhibition in NMDA receptors. PMID: 23847085
31. The results of this study indicated that rs2072450 of GRIN2A might confer risk for alcohol dependence through deficient fear acquisition indexed by a diminished amygdala response during aversive learning,. PMID: 23693003
32. GRIN2A single nucleotide polymorphisms are asociated with phenotypic brain volume variations in multiple slcerosis. PMID: 22851457
33. After 7 days of chronic alcohol exposure there are significant increases in mRNA expression of GRIN2A in cultured neurons derived from alcoholic subjects, but not in cultures from nonalcoholics. PMID: 22486492
34. Two de novo mutations in GRIN2A are identified in patients with sporadic schizophrenia. PMID: 22833210
35. The results show a significant association between polymorphism of the GRIN2A gene and alcoholism. PMID: 21507155
36. NMDA subunit NR2A is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. PMID: 20848605
37. glutamate receptor gene GRIN2A is a Parkinson's disease modifier gene via interaction with coffee PMID: 21876681
38. Polymorphism rs11866328 in the GRIN2A gene might be a genetic variant underlying the susceptibility of HBV carriers to disease progression. PMID: 22004137
39. identified as prime candidate gene for photoparoxysmal response PMID: 21883175
40. This review focuses on the role of the NMDA receptor subunits in schizophrenia, particularly via altering the balance of NR2 subunits during early development, could influence NRG1 signalling {REVIEW} PMID: 21371516
41. Exome sequencing identifies GRIN2A as frequently mutated in melanoma. PMID: 21499247
42. Data show that that all seven currently known NMDAR subunits (NR1, NR2A, NR2B, NR2C, NR2D, NR3A and NR3B) are expressed in astrocytes, but at different levels. PMID: 21152063
43. In melanoma, GRIN2A is identified as a common somatic mutation. PMID: 21499247
44. Mutations cause mental neurodevvelopmental disordes such as epilepsy and mental retardation. PMID: 20890276
45. Data demonstrate that tat treatment of human neurons results in tyrosine phosphorylation of the NMDAR subunit 2A (NR2A) in a src kinase-dependent manner. PMID: 20448061
46. Functional (GT)n polymorphisms in promoter region of N-methyl-d-aspartate receptor 2A subunit (GRIN2A) gene affect hippocampal and amygdala volumes PMID: 20070378
47. the PFC, glutamatergic regulation of PV-containing inhibitory neurons via NR2A-containing NMDA receptors does not appear to be altered in bipolar disorder. PMID: 20148871
48. Tyrosine-1325 phosphorylation regulates N-methyl-D-aspartate (NMDA) receptor channel properties and NMDA receptor-mediated downstream signaling to modulate depression-related behavior. PMID: 19834457
49. The C-terminus of NR2A is critical for modulation of desensitization by calcineurin. PMID: 11985816
50. The levels of NR2A mRNA are decreased in Alzheimer disease hippocampus and entorhinal cortex compared to controls. PMID: 12127670

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HGNC: 4585

OMIM: 138253

KEGG: hsa:2903

STRING: 9606.ENSP00000332549

UniGene: Hs.411472