EDK
Editome Disease Knowledgebase
SLC1A2
| Gene symbol | SLC1A2 |
|---|---|
| Aliases | EAAT2 |
| Protein Name | Excitatory amino acid transporter 2 |
| Function | This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Amyotrophic Lateral Sclerosis; |
| Description | There is significant association between RNA editing in EAAT2 and ALS, which appears to involve alternative polyadenylation in intron 7. This would be expected to result in premature termination of transcription and reduced levels of EAAT2 glutamate transporter, both of which have been observed in ALS. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P43004(Uniport); NM_004171 (NM id); 6506 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Molecular Consequence | Editing Level | Tissue | Interaction | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | Intronic | 1591 | Alternative splicing | Present | Spinal cord; Cortex; Cerebellum | Reduce the levels of EAAT2 glutamate transporter | RNA editing results in premature termination of transcription and reduces levels of EAAT2 glutamate transporter which have been observed in ALS. | Affect disease processing |