Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6506
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 1 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC1A2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE41, EAAT2, EIEE41, GLT-1, GLT1, HBGT
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p13
Summary Summary of gene provided in NCBI Entrez Gene.
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. Gl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs781379291 G>A,C Likely-pathogenic Missense variant, coding sequence variant, intron variant
rs886037942 C>G,T Pathogenic Missense variant, coding sequence variant
rs886037943 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT675489 hsa-miR-3190-5p HITS-CLIP 23313552
MIRT675488 hsa-miR-3176 HITS-CLIP 23313552
MIRT675487 hsa-miR-3922-3p HITS-CLIP 23313552
MIRT675486 hsa-miR-564 HITS-CLIP 23313552
MIRT675485 hsa-miR-4743-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005313 Function L-glutamate transmembrane transporter activity IBA
GO:0005313 Function L-glutamate transmembrane transporter activity IDA 7521911
GO:0005313 Function L-glutamate transmembrane transporter activity IEA
GO:0005314 Function High-affinity L-glutamate transmembrane transporter activity IDA 26690923
GO:0005314 Function High-affinity L-glutamate transmembrane transporter activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600300 10940 ENSG00000110436
Protein
UniProt ID P43004
Protein name Excitatory amino acid transporter 2 (Glutamate/aspartate transporter II) (Sodium-dependent glutamate/aspartate transporter 2) (Solute carrier family 1 member 2)
Protein function Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:14506254, PubMed:15265858, PubMed:26690923, PubMed:7521911). Functions as a symporter that transports one
PDB 7VR7 , 7VR8 , 7XR4 , 7XR6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 46 496 Sodium:dicarboxylate symporter family Family
Sequence
Sequence length 574
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle
Glutamatergic synapse
Amyotrophic lateral sclerosis
Huntington disease
  Astrocytic Glutamate-Glutamine Uptake And Metabolism
Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 41 rs886037942, rs781379291 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Epileptic encephalopathy undetermined early-onset epileptic encephalopathy N/A N/A GenCC
Hypothyroidism Hypothyroidism N/A N/A GWAS
Tremor Essential tremor N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Stimulate 39603277
Adenocarcinoma Mucinous Associate 25576211
Alexander Disease Associate 31611638
Alzheimer Disease Associate 12408226, 18326497, 20688910, 33275249, 34310962, 34800614, 39603277, 9771796
Alzheimer Disease Inhibit 20193040, 21743130
Alzheimer Disease Stimulate 29374250
Amyotrophic Lateral Sclerosis Associate 18326497, 20508255, 30359484, 9771796
Astrocytoma Associate 11606683
Autistic Disorder Associate 25406999
Bipolar Disorder Associate 18191109, 25406999, 26340055, 28525603, 31123248