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

Gene ID: 6506, updated on 31-Dec-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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (35251205..35420058, 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 Functions

What'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 PubChem

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_001195728.3NP_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/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_001252652.2NP_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/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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    35251205..35420058 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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