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

Gene ID: 6506, updated on 2-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects. Tan EK, et al. Neurology, 2013 Apr 23. PMID 23596072
  2. Increased RNA editing in EAAT2 pre-mRNA from amyotrophic lateral sclerosis patients: involvement of a cryptic polyadenylation site. Flomen R, et al. Neurosci Lett, 2011 Jun 22. PMID 21569822
  3. Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis. Flowers JM, et al. Ann Neurol, 2001 May. PMID 11357955
  4. Role of excitatory amino acid transporter-2 (EAAT2) and glutamate in neurodegeneration: opportunities for developing novel therapeutics. Kim K, et al. J Cell Physiol, 2011 Oct. PMID 21792905, Free PMC Article
  5. Genetic variation of the glutamate transporter EAAT2 gene and vulnerability to alcohol dependence. Sander T, et al. Psychiatr Genet, 2000 Sep. PMID 11204345

See all (181) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hyperglycemia impairs EAAT2 glutamate transporter trafficking and glutamate clearance in islets of Langerhans: implications for type 2 diabetes pathogenesis and treatment.
    Title: Hyperglycemia impairs EAAT2 glutamate transporter trafficking and glutamate clearance in islets of Langerhans: implications for type 2 diabetes pathogenesis and treatment.
  2. Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.
    Title: Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.
  3. The Regulation of GLT-1 Degradation Pathway by SIRT4.
    Title: The Regulation of GLT-1 Degradation Pathway by SIRT4.
  4. The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.
    Title: The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.
  5. Structural insights into inhibitory mechanism of human excitatory amino acid transporter EAAT2.
    Title: Structural insights into inhibitory mechanism of human excitatory amino acid transporter EAAT2.
  6. PKCalpha phosphorylation of GLT-1 at Ser562/563 induces glutamate excitotoxicity in ischemia in mice.
    Title: PKCα phosphorylation of GLT-1 at Ser562/563 induces glutamate excitotoxicity in ischemia in mice.
  7. Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
    Title: Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
  8. Polymorphism of rs12294045 in EAAT2 gene is potentially associated with schizophrenia in Chinese Han population.
    Title: Polymorphism of rs12294045 in EAAT2 gene is potentially associated with schizophrenia in Chinese Han population.
  9. Astrocytic transcription factor REST upregulates glutamate transporter EAAT2, protecting dopaminergic neurons from manganese-induced excitotoxicity.
    Title: Astrocytic transcription factor REST upregulates glutamate transporter EAAT2, protecting dopaminergic neurons from manganese-induced excitotoxicity.
  10. Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.
    Title: Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.
Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables glutamate:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables high-affinity L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables high-affinity L-glutamate transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic anion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables neutral L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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

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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)

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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_001195728.3 → NP_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:37 → 487
    SDF; Sodium:dicarboxylate symporter family

  2. NM_001252652.2 → NP_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:37 → 487
    SDF; Sodium:dicarboxylate symporter family

  3. NM_004171.4 → NP_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:46 → 496
    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_047427443.1 → XP_047283399.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  2. XM_011520285.2 → XP_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:42 → 492
    SDF; Sodium:dicarboxylate symporter family

  3. XM_017018138.2 → XP_016873627.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1, Q59FL6
    Related
    ENSP00000495164.1, ENST00000643000.1
    Conserved Domains (1) summary
    pfam00375
    Location:37 → 487
    SDF; Sodium:dicarboxylate symporter family

  4. XM_017018137.2 → XP_016873626.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1, Q59FL6
    Related
    ENSP00000379102.1, ENST00000395753.6
    Conserved Domains (1) summary
    pfam00375
    Location:37 → 487
    SDF; Sodium:dicarboxylate symporter family

  5. XM_017018139.2 → XP_016873628.1  excitatory amino acid transporter 2 isoform X6

    UniProtKB/TrEMBL
    A0A2R8YFE3, Q59FL6
    Related
    ENSP00000496375.1, ENST00000643522.1

  6. XM_047427442.1 → XP_047283398.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  7. XM_047427440.1 → XP_047283396.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1
    Related
    ENSP00000494669.1, ENST00000644299.1

  8. XM_047427437.1 → XP_047283393.1  excitatory amino acid transporter 2 isoform X2

  9. XM_047427438.1 → XP_047283394.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  10. XM_017018136.1 → XP_016873625.1  excitatory amino acid transporter 2 isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y860, Q59FL6
    Related
    ENSP00000496667.1, ENST00000645303.1

  11. XM_047427441.1 → XP_047283397.1  excitatory amino acid transporter 2 isoform X7

  12. XM_047427436.1 → XP_047283392.1  excitatory amino acid transporter 2 isoform X1

    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_054369680.1 → XP_054225655.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  2. XM_054369673.1 → XP_054225648.1  excitatory amino acid transporter 2 isoform X4

    UniProtKB/TrEMBL
    A0A2U3TZS7

  3. XM_054369676.1 → XP_054225651.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  4. XM_054369675.1 → XP_054225650.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  5. XM_054369678.1 → XP_054225653.1  excitatory amino acid transporter 2 isoform X6

    UniProtKB/TrEMBL
    A0A2R8YFE3

  6. XM_054369679.1 → XP_054225654.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  7. XM_054369677.1 → XP_054225652.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  8. XM_054369671.1 → XP_054225646.1  excitatory amino acid transporter 2 isoform X2

  9. XM_054369674.1 → XP_054225649.1  excitatory amino acid transporter 2 isoform X5

    UniProtKB/TrEMBL
    A2A2U1

  10. XM_054369672.1 → XP_054225647.1  excitatory amino acid transporter 2 isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y860

  11. XM_054369670.1 → XP_054225645.1  excitatory amino acid transporter 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43004.2 GenPept UniProtKB/Swiss-Prot:P43004

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