UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:EAAT2
HGNC Symbol:SLC1A2
HGNC Description:solute carrier family 1 (glial high affinity glutamate transporter), member 2
HGNC ID:10940
Chromosome:Chr.11(-): 35229328-35397681
Location:11p13-p12
OMIM:600300
OMIM Phenotype:Amyotryphic lateral sclerosis
Accessions:NM_004171
Nucleotide RefSeq:NM_004171
Protein RefSeq:NP_004162
Entrez:6506
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. L-Glu, D/L Asp Substrate In Vivo Evidence: 1. KO mice show lethal spontaneous epileptic seizures - Tanaka K et al, Science, 1997: 1699-702 Tissue Distribution Evidence: 1. Astrocytes (Northern), glial cells of brain (IHC) - Peghini P et al, EMBO Journal, 1997: 3822-3832
Tissues:Astrocytes
Type:protein coding
Sets:V
PharmGKB ID:PA35827
HPRD ID:02625
Substrates:L-Glu, D/L Asp
Trivial Names:EAAT2, GLT-1
Transcripts:NM_004171 [Chr.11(-): 35229328-35397681]

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.