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

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: mouse all
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Genomic context

Location:: 11p13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (35251205..35420507, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (35389505..35559339, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (35272752..35441605, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The Regulation of GLT-1 Degradation Pathway by SIRT4.
Title: The Regulation of GLT-1 Degradation Pathway by SIRT4.
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.
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.
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.
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
Title: Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
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.
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.
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.
Conformationally Sensitive Proximity Between the TM3-4 Loop and Hairpin Loop 2 of the Glutamate Transporter EAAT2 Revealed by Paired-Cysteine Mutagenesis.
Title: Conformationally Sensitive Proximity Between the TM3-4 Loop and Hairpin Loop 2 of the Glutamate Transporter EAAT2 Revealed by Paired-Cysteine Mutagenesis.

Submit: New GeneRIF Correction See all GeneRIFs (132)

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	Compare labs

EBI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D11S4061 (e-PCR)
- UniSTS:154132

D11S941E (e-PCR)
- UniSTS:147498

SLC1A2 (e-PCR)
- UniSTS:266540

RH11741 (e-PCR)
- UniSTS:80188

AB056372 (e-PCR)
- UniSTS:480066

D11S945E (e-PCR)
- UniSTS:147542

D11S941E (e-PCR)
- UniSTS:46934

D11S2323E (e-PCR)
- UniSTS:59740

RH64984 (e-PCR)
- UniSTS:33898

D11S2385 (e-PCR)
- UniSTS:8820

D11S1264 (e-PCR)
- UniSTS:148357

SHGC-144080 (e-PCR)
- UniSTS:172166

SLC1A2 (e-PCR)
- UniSTS:41635

SLC1A2_2151 (e-PCR)
- UniSTS:281005

D11S2280E (e-PCR)
- UniSTS:18878

HSC13E022 (e-PCR)
- UniSTS:41674

D11S2282E (e-PCR)
- UniSTS:73680

RH65376 (e-PCR)
- UniSTS:3282

NIB521 (e-PCR)
- UniSTS:73170

D11S945E (e-PCR)
- UniSTS:52186

G19754 (e-PCR)
- UniSTS:26843

A001X30 (e-PCR)
- UniSTS:26844

G20481 (e-PCR)
- UniSTS:62942

A005T24 (e-PCR)
- UniSTS:62943

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 cellular response to extracellular stimulus	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 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

NG_008727.2 RefSeqGene

Range

5001..173354

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

35251205..35420507 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A2A2U1
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
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
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
XM_017018139.2 → XP_016873628.1 excitatory amino acid transporter 2 isoform X6

UniProtKB/TrEMBL

A0A2R8YFE3, Q59FL6

Related

ENSP00000496375.1, ENST00000643522.1
XM_047427442.1 → XP_047283398.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_047427440.1 → XP_047283396.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1

Related

ENSP00000494669.1, ENST00000644299.1
XM_047427437.1 → XP_047283393.1 excitatory amino acid transporter 2 isoform X2
XM_047427438.1 → XP_047283394.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_017018136.1 → XP_016873625.1 excitatory amino acid transporter 2 isoform X3

UniProtKB/TrEMBL

A0A2R8Y860, Q59FL6

Related

ENSP00000496667.1, ENST00000645303.1
XM_047427441.1 → XP_047283397.1 excitatory amino acid transporter 2 isoform X7
XM_047427436.1 → XP_047283392.1 excitatory amino acid transporter 2 isoform X1

Related

ENSP00000495126.1, ENST00000643454.1

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

35389505..35559339 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A2A2U1
XM_054369673.1 → XP_054225648.1 excitatory amino acid transporter 2 isoform X4

UniProtKB/TrEMBL

A0A2U3TZS7
XM_054369676.1 → XP_054225651.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_054369675.1 → XP_054225650.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_054369678.1 → XP_054225653.1 excitatory amino acid transporter 2 isoform X6

UniProtKB/TrEMBL

A0A2R8YFE3
XM_054369679.1 → XP_054225654.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_054369677.1 → XP_054225652.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_054369671.1 → XP_054225646.1 excitatory amino acid transporter 2 isoform X2
XM_054369674.1 → XP_054225649.1 excitatory amino acid transporter 2 isoform X5

UniProtKB/TrEMBL

A2A2U1
XM_054369672.1 → XP_054225647.1 excitatory amino acid transporter 2 isoform X3

UniProtKB/TrEMBL

A0A2R8Y860
XM_054369670.1 → XP_054225645.1 excitatory amino acid transporter 2 isoform X1