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
Superfamily:SLC
Chromosome:Chr.11(-): 35272752-35441610 GRCh37
Location:11p13-p12
OMIM:600300
OMIM Phenotype:Amyotryphic lateral sclerosis
Accessions:NM_004171
Nucleotide RefSeq:NM_004171
Protein RefSeq:NP_004162
Entrez:6506
Ensembl:ENSG00000110436
Isoforms:5
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_004171.3 [Chr.11(-): 35272752-35441105 GRCh37]
NM_001195728.2 [Chr.11(-): 35272752-35441610 GRCh37]
NM_001252652.1 [Chr.11(-): 35272752-35441610 GRCh37]
XM_005253066.1 [Chr.11(-): 35272752-35421186 GRCh37]
XM_005253067.1 [Chr.11(-): 35272752-35381675 GRCh37]
ENST00000278379 [Chr.11(-): 35272753-35440796 GRCh37]
ENST00000395750 [Chr.11(-): 35272772-35441524 GRCh37]
ENST00000395753 [Chr.11(-): 35272772-35441610 GRCh37]
ENST00000449068 [Chr.11(-): 35327740-35441573 GRCh37]
ENST00000464522 [Chr.11(-): 35275968-35287292 GRCh37]
ENST00000479543 [Chr.11(-): 35282418-35308334 GRCh37]
ENST00000531628 [Chr.11(-): 35287148-35323075 GRCh37]
ENST00000606205 [Chr.11(-): 35286941-35440617 GRCh37]
Annotation History:View Events (32)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC1A2.

Variant Data

View all PMT variants for SLC1A2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

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.