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    SLC1A2 solute carrier family 1 member 2 [ Homo sapiens (human) ]

    Gene ID: 6506, updated on 19-Jul-2016
    Official Symbol
    SLC1A2provided by HGNC
    Official Full Name
    solute carrier family 1 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10940
    See related
    Ensembl:ENSG00000110436 HPRD:02625; MIM:600300; Vega:OTTHUMG00000044391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBGT; EAAT2; GLT-1
    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. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    11p13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (35251205..35420063, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35272752..35441610, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507144 Neighboring gene CD44 molecule (Indian blood group) Neighboring gene uncharacterized LOC107984324 Neighboring gene peptidase domain containing associated with muscle regeneration 1 Neighboring gene four jointed box 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    NHGRI GWA Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    NHGRI GWA Catalog
    Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Astrocyte elevated gene (AEG)-1 expression is increased in astrocytes infected with HIV-1 or treated with HIV-1 gp120; AEG-1 inhibits excitatory amino acid transporter 2 (EAAT2) promoter activity with the potential to promote glutamate excito-toxicity PubMed
    Tat tat HIV-1 and the viral protein Tat modulate the expression of solute carrier family 1, member 2 (SLC1A2; glial high affinity glutamate transporter) in immature dendritic cells and PubMed

    Go to the HIV-1, Human Interaction Database

    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Astrocytic Glutamate-Glutamine Uptake And Metabolism, organism-specific biosystem (from REACTOME)
      Astrocytic Glutamate-Glutamine Uptake And Metabolism, organism-specific biosystemIn astrocytic glutamate-glutamine cycle, the excess glutamate released by the pre-synaptic neuron in the synaptic cleft is transported into the astrocyte by a family glutamate transporters called th...
    • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • Neurotransmitter uptake and Metabolism In Glial Cells, organism-specific biosystem (from REACTOME)
      Neurotransmitter uptake and Metabolism In Glial Cells, organism-specific biosystemNeuotransmitter uptake by astrocytes is mediated by specific transporter located on the astrocytic membrane. The imported neurotransmitter in the astrocytes is metabolized and transported back to the...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
      Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    glutamate:sodium symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    high-affinity glutamate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    D-aspartate import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    glutamate secretion TAS
    Traceable Author Statement
    more info
     
    ion transport TAS
    Traceable Author Statement
    more info
     
    multicellular organism aging IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    telencephalon development IEA
    Inferred from Electronic Annotation
    more info
     
    visual behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    excitatory amino acid transporter 2
    Names
    excitotoxic amino acid transporter 2
    glutamate/aspartate transporter II
    sodium-dependent glutamate/aspartate transporter 2
    solute carrier family 1 (glial high affinity glutamate transporter), member 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008727.1 RefSeqGene

      Range
      5001..173354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195728.2NP_001182657.1  excitatory amino acid transporter 2 isoform 2

      See identical proteins and their annotated locations for NP_001182657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      BC047052, BC132768, BX538155, DA215039, U01824
      Consensus CDS
      CCDS55756.1
      UniProtKB/Swiss-Prot
      P43004
      UniProtKB/TrEMBL
      A2A2U1
      Related
      ENSP00000379099, OTTHUMP00000165210, ENST00000395750, OTTHUMT00000258183
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    2. NM_001252652.1NP_001239581.1  excitatory amino acid transporter 2 isoform 2

      See identical proteins and their annotated locations for NP_001239581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AC090625, AK122843, BC047052, BC132768, BX538155
      Consensus CDS
      CCDS55756.1
      UniProtKB/Swiss-Prot
      P43004
      UniProtKB/TrEMBL
      A2A2U1
      Related
      ENSP00000379102, OTTHUMP00000165209, ENST00000395753, OTTHUMT00000258182
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    3. NM_004171.3NP_004162.2  excitatory amino acid transporter 2 isoform 1

      See identical proteins and their annotated locations for NP_004162.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL133330, BC047052, D85884, DA158200, DB465494
      Consensus CDS
      CCDS31459.1
      UniProtKB/Swiss-Prot
      P43004
      Related
      ENSP00000278379, OTTHUMP00000165208, ENST00000278379, OTTHUMT00000258181
      Conserved Domains (1) summary
      pfam00375
      Location:46496
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      35251205..35420063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520285.2XP_011518587.1  

      See identical proteins and their annotated locations for XP_011518587.1

      Conserved Domains (1) summary
      pfam00375
      Location:42492
      SDF; Sodium:dicarboxylate symporter family
    2. XM_017018137.1XP_016873626.1  

    3. XM_017018138.1XP_016873627.1  

    4. XM_017018139.1XP_016873628.1  

    5. XM_017018136.1XP_016873625.1  

    6. XM_005253067.1XP_005253124.1  

      See identical proteins and their annotated locations for XP_005253124.1

      Conserved Domains (1) summary
      pfam00375
      Location:43493
      SDF; Sodium:dicarboxylate symporter family

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      35271219..35439999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)