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

    Gene ID: 6506, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:10940
    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
    GLT1; HBGT; DEE41; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC1A2 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (35251205..35420507, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (35389505..35559339, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35272752..35441605, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4619 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35194606-35195107 Neighboring gene small nucleolar RNA, C/D box 164 Neighboring gene CD44 molecule (IN blood group) Neighboring gene NANOG hESC enhancer GRCh37_chr11:35227049-35227813 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:35235787-35236986 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35238494-35239323 Neighboring gene CD44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4622 Neighboring gene SLC1A2 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35316953-35317454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4623 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:35351933-35352492 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:35366234-35366761 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35369348-35369849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:35440751-35441251 Neighboring gene SLC1A2 antisense RNA 2 Neighboring gene peptidase domain containing associated with muscle regeneration 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3259 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:35639867-35640028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:35640328-35640962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:35640963-35641597 Neighboring gene four-jointed box kinase 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 41
    MedGen: C4310717 OMIM: 617105 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in D-aspartate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-aspartate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-aspartate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in L-glutamate import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-glutamate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-glutamate import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cysteine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter reuptake IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter transport TAS
    Traceable Author Statement
    more info
     
    involved_in positive regulation of D-glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telencephalon development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transepithelial transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in visual behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in astrocyte projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of membrane protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in presynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    excitatory amino acid transporter 2
    Names
    excitotoxic amino acid transporter 2
    glutamate transporter-1
    glutamate/aspartate transporter II
    human brain glutamate transporter
    sodium-dependent glutamate/aspartate transporter 2
    solute carrier family 1 (glial high affinity glutamate transporter), member 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001195728.3NP_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/TrEMBL
      A2A2U1, Q59FL6
      Related
      ENSP00000494025.1, ENST00000647104.1
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    2. NM_001252652.2NP_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/TrEMBL
      A2A2U1, Q59FL6
      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
      B4DQE9, P43004, Q14417, Q541G6, U3KQQ4
      UniProtKB/TrEMBL
      Q59FL6
      Related
      ENSP00000278379.3, ENST00000278379.9
      Conserved Domains (1) summary
      pfam00375
      Location:46496
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      35251205..35420507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427443.1XP_047283399.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    2. XM_011520285.2XP_011518587.1  excitatory amino acid transporter 2 isoform X4

      See identical proteins and their annotated locations for XP_011518587.1

      UniProtKB/TrEMBL
      A0A2U3TZS7, Q59FL6
      Related
      ENSP00000379099.2, ENST00000395750.6
      Conserved Domains (1) summary
      pfam00375
      Location:42492
      SDF; Sodium:dicarboxylate symporter family
    3. XM_017018138.2XP_016873627.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
      Related
      ENSP00000495164.1, ENST00000643000.1
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    4. XM_017018137.2XP_016873626.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
      Related
      ENSP00000379102.1, ENST00000395753.6
      Conserved Domains (1) summary
      pfam00375
      Location:37487
      SDF; Sodium:dicarboxylate symporter family
    5. XM_017018139.2XP_016873628.1  excitatory amino acid transporter 2 isoform X6

      UniProtKB/TrEMBL
      A0A2R8YFE3, Q59FL6
      Related
      ENSP00000496375.1, ENST00000643522.1
    6. XM_047427442.1XP_047283398.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    7. XM_047427440.1XP_047283396.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
      Related
      ENSP00000494669.1, ENST00000644299.1
    8. XM_047427437.1XP_047283393.1  excitatory amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      Q59FL6
    9. XM_047427438.1XP_047283394.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    10. XM_017018136.1XP_016873625.1  excitatory amino acid transporter 2 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y860, Q59FL6
      Related
      ENSP00000496667.1, ENST00000645303.1
    11. XM_047427441.1XP_047283397.1  excitatory amino acid transporter 2 isoform X7

      UniProtKB/TrEMBL
      Q59FL6
    12. XM_047427436.1XP_047283392.1  excitatory amino acid transporter 2 isoform X1

      UniProtKB/TrEMBL
      Q59FL6
      Related
      ENSP00000495126.1, ENST00000643454.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      35389505..35559339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369680.1XP_054225655.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    2. XM_054369673.1XP_054225648.1  excitatory amino acid transporter 2 isoform X4

      UniProtKB/TrEMBL
      A0A2U3TZS7, Q59FL6
    3. XM_054369676.1XP_054225651.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    4. XM_054369675.1XP_054225650.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    5. XM_054369678.1XP_054225653.1  excitatory amino acid transporter 2 isoform X6

      UniProtKB/TrEMBL
      A0A2R8YFE3, Q59FL6
    6. XM_054369679.1XP_054225654.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    7. XM_054369677.1XP_054225652.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    8. XM_054369671.1XP_054225646.1  excitatory amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      Q59FL6
    9. XM_054369674.1XP_054225649.1  excitatory amino acid transporter 2 isoform X5

      UniProtKB/TrEMBL
      A2A2U1, Q59FL6
    10. XM_054369672.1XP_054225647.1  excitatory amino acid transporter 2 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y860, Q59FL6
    11. XM_054369670.1XP_054225645.1  excitatory amino acid transporter 2 isoform X1

      UniProtKB/TrEMBL
      Q59FL6