Human Gene SLC1A2 (ENST00000646080.1) Description and Page Index
  Description: solute carrier family 1 member 2 (from HGNC SLC1A2)
RefSeq Summary (NM_001195728): 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. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017].
Gencode Transcript: ENST00000646080.1
Gencode Gene: ENSG00000110436.13
Transcript (Including UTRs)
   Position: hg38 chr11:35,260,686-35,360,128 Size: 99,443 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr11:35,260,894-35,360,050 Size: 99,157 Coding Exon Count: 11 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:35,260,686-35,360,128)mRNA (may differ from genome)Protein (571 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC1A2
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 41* (1230), wernicke encephalopathy (13), temporal lobe epilepsy (12), periventricular leukomalacia (9), leukomalacia (9), essential tremor (8), motor neuron disease (8), dicarboxylic aminoaciduria (8), neuromyelitis optica (7), hepatic encephalopathy (6), brain edema (6), leukoencephalopathy, diffuse hereditary, with spheroids (6), morphine dependence (5), amyotrophic lateral sclerosis 1 (4), lateral sclerosis (3), toxic encephalopathy (1), schizophrenia (1), stroke, ischemic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 300.58 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 1746.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.7078-0.291 Picture PostScript Text
3' UTR -39.40208-0.189 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AY066021 - Homo sapiens excitotoxic amino acid transporter 2 mRNA, complete cds.
BC132768 - Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2, mRNA (cDNA clone MGC:164399 IMAGE:40146790), complete cds.
AK122843 - Homo sapiens cDNA FLJ16454 fis, clone BRAWH3005292, highly similar to Excitatory amino acid transporter 2.
AB209444 - Homo sapiens mRNA for solute carrier family 1, member 2 variant protein.
Z32517 - H.sapiens mRNA for glutamate transporter.
U01824 - Human glutamate/aspartate transporter II mRNA, complete cds.
D85884 - Homo sapiens mRNA for glutamate transporter, complete cds.
U03505 - Human excitatory amino acid transporter2 mRNA, complete cds.
AB527302 - Synthetic construct DNA, clone: pF1KB4461, Homo sapiens SLC1A2 gene for solute carrier family 1 (glial high affinity glutamate transporter), member 2, without stop codon, in Flexi system.
KP966086 - Homo sapiens excitatory amino acid transporter 2 splice variant d mRNA, complete cds, alternatively spliced.
AK298769 - Homo sapiens cDNA FLJ60794 complete cds, highly similar to Excitatory amino acid transporter 2.
S83375 - Homo sapiens HBGT mRNA, partial sequence.
JD166025 - Sequence 147049 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05014 - Amyotrophic lateral sclerosis (ALS)

-  Other Names for This Gene
  Alternate Gene Symbols: A0A2R8Y4W1, AB209444, uc285jaw.1
UCSC ID: uc285jaw.1
RefSeq Accession: NM_001195728
CCDS: CCDS31459.1, CCDS55756.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.