SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 [Homo sapiens] - Gene

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Summary

Official Symbol: SLC1A2provided by HGNC
Official Full Name: solute carrier family 1 (glial high affinity glutamate transporter), member 2provided by HGNC
Primary source: HGNC:10940
See related: Ensembl:ENSG00000110436; HPRD:02625; 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: EAAT2; GLT-1
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. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]

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Genomic context

Location :: 11p13-p12

Sequence :: Chromosome: 11; NC_000011.9 (35272752..35441532, complement)

See SLC1A2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

RNA editing in pre-mRNA EAAT2 appears to activate a cryptic alternative polyadenylation site, generating retention transcripts at a novel site in intron 7 of EAAT2.
Title: Increased RNA editing in EAAT2 pre-mRNA from amyotrophic lateral sclerosis patients: involvement of a cryptic polyadenylation site.
Evidence against cellular internalization in vivo of NMO-IgG, aquaporin-4, and excitatory amino acid transporter 2 in neuromyelitis optica.
Title: Evidence against cellular internalization in vivo of NMO-IgG, aquaporin-4, and excitatory amino acid transporter 2 in neuromyelitis optica.
SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels
Title: Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.
AEG-1 contributes to glioma-induced neurodegeneration (a hallmark of this fatal tumo) through regulation of EAAT2 expression.
Title: Oncogene AEG-1 promotes glioma-induced neurodegeneration by increasing glutamate excitotoxicity.
[Review] Excitatory amino acid transporter (EAAT)-2 is one of the major glutamate transporters expressed predominantly in astroglial cells and is responsible for 90% of total glutamate uptake.
Title: Role of excitatory amino acid transporter-2 (EAAT2) and glutamate in neurodegeneration: opportunities for developing novel therapeutics.
findings suggest that allelic variability in SLC1A2/3, 5-HTR1B and NTRK2 may be relevant to the underlying diathesis for suicidal acts.
Title: Risk and protective genetic variants in suicidal behaviour: association with SLC1A2, SLC1A3, 5-HTR1B &NTRK2 polymorphisms.
Data conclude that fusion of the SLC1A2 gene coding region to CD44 regulatory elements likely causes SLC1A2 transcriptional dysregulation, because tumors expressing high SLC1A2 levels also tended to be CD44-SLC1A2-positive.
Title: CD44-SLC1A2 gene fusions in gastric cancer.
This study demonitrated that Glutamate transporter variants reduce glutamate uptake in Alzheimer's disease.
Title: Glutamate transporter variants reduce glutamate uptake in Alzheimer's disease.
Results describe a homologous sequence within the 3'-UTR of the human and rat EAAT2/GLT-1 gene which is a partial sequence of the putative non-coding RNA, Ntab.
Title: Sequences of the non-coding RNA, NTAB, are contained within the 3'-UTR of human and rat EAAT2/GLT-1 transcripts and act as transcriptional enhancers.
GLT1 is a new player in glutamate homeostasis and signaling in the islet of Langerhans; beta-cells critically depend on its activity to control extracellular glutamate levels and cellular integrity
Title: The glial glutamate transporter 1 (GLT1) is expressed by pancreatic beta-cells and prevents glutamate-induced beta-cell death.

Submit: New GeneRIF Correction See all (53)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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 excitotoxicity	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NC_000011.8	NP_005369.2	MYCN	BIND	PubMed	N-Myc interacts with the EAAT2 promoter.
NC_000011.8	NP_068810.2	RELA	BIND	PubMed	p65 interacts with the EAAT2 promoter.
NC_000011.8			BIND	PubMed	p50/p65 interacts with the EAAT2 promoter.
NP_004162.2	NP_004162.2	SLC1A2	BIND	PubMed	hEAAT2 interacts with itself to form a homodimer.
NP_004162.2			BIND	PubMed	hEAAT2 dimer interacts with hEAAT2 monomer.
P43004	Ajuba	AJUBA	HPRD	PubMed
P43004	P43004	SLC1A2	HPRD	PubMed
BioGRID:112397	BioGRID:124393	AJUBA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:112397	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
L-glutamate transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
glutamate:sodium symporter activity	IEA Inferred from Electronic Annotation more info
high-affinity glutamate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
sodium:dicarboxylate symporter activity	IEA Inferred from Electronic Annotation more info
symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
D-aspartate import	IDA Inferred from Direct Assay more info	PubMed
L-amino acid transport	IEA Inferred from Electronic Annotation more info
L-glutamate import	IDA Inferred from Direct Assay more info	PubMed
L-glutamate transport	TAS Traceable Author Statement more info	PubMed
adult behavior	IEA Inferred from Electronic Annotation more info
amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
cellular response to extracellular stimulus	IEA Inferred from Electronic Annotation more info
dicarboxylic acid transport	IEA Inferred from Electronic Annotation more info
ion transport	TAS Traceable Author Statement more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
multicellular organismal aging	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
positive regulation of glucose import	IEA Inferred from Electronic Annotation more info
response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to wounding	IEA Inferred from Electronic Annotation more info
sodium ion export	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info	PubMed
telencephalon development	IEA Inferred from Electronic Annotation more info
transmembrane transport	TAS Traceable Author Statement more info
visual behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axolemma	IEA Inferred from Electronic Annotation more info
axon	IEA Inferred from Electronic Annotation more info
dendritic shaft	IEA Inferred from Electronic Annotation more info
dendritic spine	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
presynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: excitatory amino acid transporter 2

Names: excitatory amino acid transporter 2; glutamate/aspartate transporter II; excitotoxic amino acid transporter 2; sodium-dependent glutamate/aspartate transporter 2

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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

NG_008727.1 RefSeqGene

Range

4496..173354

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195728.2 → NP_001182657.1 excitatory amino acid transporter 2 isoform 2

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

UniProtKB/Swiss-Prot

P43004

Related

ENSP00000379099, OTTHUMP00000165210, ENST00000395750, OTTHUMT00000258183

Conserved Domains (1) summary

cl00573
Location:37 – 487
Blast Score: 801

SDF; Sodium:dicarboxylate symporter family
NM_001252652.1 → NP_001239581.1 excitatory amino acid transporter 2 isoform 2

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

UniProtKB/TrEMBL

A2A2U1

UniProtKB/Swiss-Prot

P43004

Conserved Domains (1) summary

cl00573
Location:37 – 487
Blast Score: 801

SDF; Sodium:dicarboxylate symporter family
NM_004171.3 → NP_004162.2 excitatory amino acid transporter 2 isoform 1

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, OTTHUMP00000165208, ENST00000278379, OTTHUMT00000258181

Conserved Domains (1) summary

cl00573
Location:46 – 496
Blast Score: 803

SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

35272752..35441532, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

34972036..35140592, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC090625.5 (1..121797)	None
genomic	AF510107.1	None
genomic	AL133330.14	CAM28290.1
		CAM28291.1
genomic	CH471064.2	EAW68141.1
		EAW68142.1
		EAW68143.1
genomic	CS448965.1	CAL69850.1
mRNA	AB209444.1	BAD92681.1
mRNA	AF131756.1	None
mRNA	AK054855.1	None
mRNA	AK057674.1	None
mRNA	AK090810.1	None
mRNA	AK122843.1	BAG53756.1
mRNA	AK298769.1	BAG60911.1
mRNA	AL157452.1	None
mRNA	AY066021.1	AAL57716.1
mRNA	BC031313.2	None
mRNA	BC047052.1	None
mRNA	BC132768.1	AAI32769.1
mRNA	BX509751.1	None
mRNA	BX538155.1	None
mRNA	BX648750.1	None
mRNA	CR626999.1	None
mRNA	CR627009.1	None
mRNA	CR627022.1	None
mRNA	CR749842.1	None
mRNA	D85884.1	BAA28706.1
mRNA	DA158200.1	None
mRNA	DA215039.1	None
mRNA	DB465494.2	None
mRNA	U01824.1	AAA18900.1
mRNA	U03505.1	AAA50429.1
mRNA	Z32517.1	CAA83532.1