Gene: SLC1A2

Alternate names for this Gene: DEE41|EAAT2|EIEE41|GLT-1|HBGT

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: solute carrier family 1 member 2

Type of Gene: protein-coding

rs2421897 in SLC1A2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

rs781379291 in SLC1A2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 PMID 23107647 2012 A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.

PMID 28777935 2017 De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

PMID 24214974 2013 Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

rs3794087 in SLC1A2 gene and Essential Tremor PMID 22764253 2012 Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.

rs1043101 in SLC1A2 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.