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

    Gene ID: 6506, updated on 15-Apr-2019

    Summary

    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 MIM:600300
    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; EIEE41
    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. 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]
    Expression
    Restricted expression toward brain (RPKM 153.3) See more
    Orthologs

    Genomic context

    See SLC1A2 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 small nucleolar RNA, C/D box 164 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 kinase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epileptic encephalopathy, early infantile, 41
    MedGen: C4310717 OMIM: 617105 GeneReviews: Not available
    Compare labs

    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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • 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), organism-specific biosystem (from WikiPathways)
      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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamate:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-affinity glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    D-aspartate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult behavior 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
     
    neurotransmitter reuptake IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to amino acid 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 
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integral component of presynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_008727.2 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
      ENSP00000494025.1, ENST00000647104.1
      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
      ENSP00000493945.1, ENST00000645634.1
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    3. NM_004171.4NP_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
      ENSP00000278379.3, ENST00000278379.9
      Conserved Domains (1) summary
      pfam00375
      Location:46496
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011520285.2XP_011518587.1  excitatory amino acid transporter 2 isoform X3

      See identical proteins and their annotated locations for XP_011518587.1

      Related
      ENSP00000379099.2, ENST00000395750.6
      Conserved Domains (1) summary
      pfam00375
      Location:42492
      SDF; Sodium:dicarboxylate symporter family
    2. XM_017018137.1XP_016873626.1  excitatory amino acid transporter 2 isoform X4

      UniProtKB/TrEMBL
      A2A2U1
      Related
      ENSP00000379102.1, ENST00000395753.6
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    3. XM_017018138.1XP_016873627.1  excitatory amino acid transporter 2 isoform X4

      UniProtKB/TrEMBL
      A2A2U1
      Related
      ENSP00000495164.1, ENST00000643000.1
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    4. XM_017018139.1XP_016873628.1  excitatory amino acid transporter 2 isoform X5

      Related
      ENSP00000496375.1, ENST00000643522.1
    5. XM_017018136.1XP_016873625.1  excitatory amino acid transporter 2 isoform X1

      Related
      ENSP00000496667.1, ENST00000645303.1
    6. XM_005253067.1XP_005253124.1  excitatory amino acid transporter 2 isoform X2

      See identical proteins and their annotated locations for XP_005253124.1

      Related
      ENSP00000494113.1, ENST00000646080.1
      Conserved Domains (1) summary
      pfam00375
      Location:43493
      SDF; Sodium:dicarboxylate symporter family
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