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

Gene ID: 6506, updated on 12-Aug-2018

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; 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; 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 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 Jun 15 11:32:44 2016

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 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
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 
high-affinity glutamate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
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_008727.1 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
    ENSP00000494025.1, OTTHUMP00000165210, ENST00000647104.1, 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
    ENSP00000493945.1, OTTHUMP00000165209, ENST00000645634.1, 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
    ENSP00000278379.3, OTTHUMP00000165208, ENST00000278379.8, OTTHUMT00000258181
    Conserved Domains (1) summary
    pfam00375
    Location:46496
    SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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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