EDK
Editome Disease Knowledgebase
GRIK2
| Gene symbol | GRIK2 |
|---|---|
| Aliases | GLUR6 |
| Protein Name | Glutamate receptor ionotropic, kainate 2 |
| Function | Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. |
| Species | Human;Rat;Mouse |
| Editing Sites | 1 |
| Disease | Epileptic; |
| Description | It remains unclear whether changes in GluR2 mRNA editing occurs in particular populations of neurons. Furthermore, it is rather unlikely that the significant Increase in GluR5-editing efficiency in the temporal cortex tissue is an essential part of the pathogenesis of epilepsy. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | Q13002(Uniport); NM_021956 (NM id); 2898 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | CDS | NA | CAG->CGG | Q->R | Nonsynonymous substitution | Similar | Hippocampal; Neocortical samples; Cerebellar granule cells | The significant increase in GluR5-editing efficiency in the temporal cortex tissue is an essential part of the pathogenesis of epilepsy. | Unrelated | ||
|
A-to-I | CDS | NA | CAG->CGG | Q->R | Nonsynonymous substitution | Decreased | Spinal cord | The editing of the ionotropic KAR is decreased at both GluK1 and GluK2 Q/R sites in the epicenter of the lesion. | Reduce RNA editing in disease | ||
|
A-to-I | CDS | NA | NA | I->V | Nonsynonymous substitution | Decreased | Spinal cord | The I/V site was showed a strong downregulation that persisted through the observational period in Spinal Cord Injury. | Reduce RNA editing in disease | ||
|
A-to-I | CDS | NA | NA | Y->C | Nonsynonymous substitution | Decreased | Spinal cord | The I/V site was showed a strong downregulation that persisted through the observational period in Spinal Cord Injury. | Reduce RNA editing in disease | ||
|
A-to-I | exonic | chr6:102337702 | NA | NA | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD | ||
|
A-to-I | intronic | chr6:102374634 | NA | NA | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD |