Gene

SLC1A2

Species
Homo sapiens
Symbol
SLC1A2
Name
solute carrier family 1 member 2
Synonyms
  • DEE41
  • EAAT2
Biotype
protein coding gene
Automated Description
Enables high-affinity L-glutamate transmembrane transporter activity. Involved in amino acid import across plasma membrane and protein homotrimerization. Located in cell surface; membrane raft; and plasma membrane. Part of membrane protein complex. Is active in presynaptic membrane. Implicated in developmental and epileptic encephalopathy 41. Biomarker of Huntington's disease and amyotrophic lateral sclerosis.
RGD Description
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. [provided by RefSeq, Jun 2017]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11958
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
35.26M35.28M35.30M35.32M35.34M35.36M35.38M35.40M35.42M

Sequence Details

Loading...

Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions