Gene Gene information from NCBI Gene database.
Entrez ID 6506
Gene name Solute carrier family 1 member 2
Gene symbol SLC1A2
Synonyms (NCBI Gene)
DEE41EAAT2EIEE41GLT-1GLT1HBGT
Chromosome 11
Chromosome location 11p13
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. Gl
SNPs SNP information provided by dbSNP.
3
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.
648
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600300 10940 ENSG00000110436
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
68
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 41 Likely pathogenic; Pathogenic rs2497859234, rs2497774921, rs886037942, rs1431104151, rs2497830626, rs2497617328, rs781379291 RCV002465467
RCV002466370
RCV000240886
RCV003231066
RCV003231067
RCV003231069
RCV000505595
RCV000505637
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Uncertain significance rs2134719101 RCV002252537
SLC1A2-related disorder Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign rs145827578, rs7102949, rs145257000, rs34298257, rs2134871359, rs1022532582, rs199599866, rs1318827813, rs1227601469, rs2497774098, rs2497620625, rs2497620751, rs142741081, rs200968484, rs148741073
View all (3 more)
RCV003908634
RCV003921084
RCV003948530
RCV003931132
RCV003418272
RCV003968612
RCV003911310
RCV004753615
RCV004731306
RCV003402270
RCV003904618
RCV003913957
RCV003950336
RCV003948272
RCV003967956
RCV004753256
RCV004753134
RCV003942984
Associations from Text MiningDisease 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