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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 41 Likely pathogenic; Pathogenic rs2497859234, rs2497774921, rs886037942, rs1431104151, rs2497830626, rs2497617328, rs781379291 RCV002465467
RCV002466370
RCV000240886
RCV003231066
RCV003231067
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 17823119
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 25785590
★☆☆☆☆
Found in Text Mining only
Alexander Disease Alexander Disease BEFREE 19129171
★☆☆☆☆
Found in Text Mining only
Alexander Disease Alexander disease Pubtator 31611638 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12408226, 18326497, 20688910, 33275249, 34310962, 34800614, 39603277, 9771796 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20193040, 21743130 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29374250 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 11071482
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 10540035, 10653305, 11071482, 11357955, 11790392, 11818550, 12153483, 12504589, 15246112, 17823119, 19322031, 19428804, 19672971, 20152807, 21569822
View all (20 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations