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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC1A2 Gene

protein-coding GIFtS: 68
GCID: GC11M035272

solute carrier family 1 (glial high affinity glutamate transporter),...

Explore 59 diseases affiliated with
SLC1A2 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter), Member 2¹ ²		Excitatory Amino Acid Transporter 2²
EAAT2¹ ² ³ ⁵		Excitotoxic Amino Acid Transporter 2²
GLT-1¹ ²		GLT1³
Glutamate/Aspartate Transporter II² ³		Solute Carrier Family 1 Member 2³
Sodium-Dependent Glutamate/Aspartate Transporter 2² ³

External Ids:	HGNC: 10940¹	Entrez Gene: 6506²	Ensembl: ENSG00000110436⁷	OMIM: 600300⁵	UniProtKB: P43004³

Export aliases for SLC1A2 gene to outside databases

Previous GC identifers: GC11M036834 GC11M035960 GC11M035315 GC11M035246 GC11M035237 GC11M035229 GC11M034972

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC1A2:

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)

UniProtKB/Swiss-Prot: EAA2_HUMAN, P43004

Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of

glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium

summary for SLC1A2:

Glutamate transporters, also known as excitatory amino acid transporters (EAATs), are sodium- and

potassium-dependent members of the solute carrier family 6 (SLC1) found widely distributed throughout the

brain. There are five EAAT subtypes, each with a specific primary distribution; EAAT1 (cerebellar glia),

EAAT2 (forebrain glia), EAAT3 (cortical neurons), EAAT4 (cerebellar Purkinje neurons) and EAAT5 (retina).

Functions of glutamate transporters include regulation of excitatory neurotransmission, maintenance of low

ambient extracellular glutamate concentrations (protects against neurotoxicity) and providing glutamate for

metabolism through the glutamate-glutamine cycle. Overactivity of glutamate transporters has been implicated

in the pathophysiology of schizophrenia and other mental illnesses, whilst underactivity is seen in ischemia

and traumatic brain injury.

Gene Wiki entry for SLC1A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC1A2 gene promoter:
GR AP-2alpha isoform 3 GR-beta ATF-2 AP-2alpha isoform 2 c-Jun AP-2alpha isoform 4 GR-alpha AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC1A2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC1A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC1A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13-p12 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13-p12

SLC1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M035272: view genomic region (about GC identifiers)

Start:	35,272,752 bp from pter	End:	35,441,610 bp from pter
Size:	168,859 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EAA2_HUMAN, P43004 (See protein sequence)

Recommended Name: Excitatory amino acid transporter 2

Size: 574 amino acids; 62104 Da

Subunit: Homotrimer. Interacts with AJUBA (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q14417 Q541G6

Alternative splicing: 2 isoforms: P43004-1 P43004-2

Explore the universe of human proteins at neXtProt for SLC1A2: NX_P43004

Post-translational modifications:

Glycosylated¹

Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate uptake

activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43004

SLC1A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001182657.1 NP_001239581.1 NP_004162.2

ENSEMBL proteins:

ENSP00000278379 ENSP00000379099 ENSP00000379102 ENSP00000435406 ENSP00000436029

ENSP00000406133

Reactome Protein details: P43004
Human Recombinant Protein Products:

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	Uscn Proteins for SLC1A2

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	TAS	7521911
GO:0016021	integral to membrane	IEA	--
GO:0030424	axon	--	--

SLC1A2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC1A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC1A2 for domains About GeneDecksing

2 InterPro domains/families:

IPR001991 Na-dicarboxylate_symporter

IPR018107 Na-dicarboxylate_symporter_CS

Graphical View of Domain Structure for InterPro Entry P43004

ProtoNet protein and cluster: P43004

1 Blocks protein family: IPB001991 Sodium:dicarboxylate symporter

UniProtKB/Swiss-Prot: EAA2_HUMAN, P43004

Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A2 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: EAA2_HUMAN, P43004

Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of

glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium

Genatlas biochemistry entry for SLC1A2:

solute carrier family 1,member A2,glial high affinity glutamate transporter,expressed in brain and pancreas,located in

astrocytes,with five transcripts alternatively spliced from 5'utr and a variant acting as a putative modifier for the

spastic paraplegia phenotype

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		hsa-miR-411* hsa-miR-323-3p hsa-miR-3194-5p hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-4272 hsa-miR-128

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A2

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005313	L-glutamate transmembrane transporter activity	TAS	7521911
GO:0005314	high-affinity glutamate transmembrane transporter activity	--	--
GO:0015501	glutamate:sodium symporter activity	IEA	--
GO:0017153	sodium:dicarboxylate symporter activity	IEA	--

SLC1A2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC1A2:

Decreased TP53 protein express

Animal Models:
Mouse knock-out Slc1a2^tm1Kta for SLC1A2
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc1a2):

behavior/neurological	cellular	growth/size	homeostasis/metabolism	mortality/aging
nervous system

SLC1A2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino acid and oligopeptide SLC transporters

Amino acid and oligopeptide SLC transporters

1.00

Transport of inorganic cations/anions and amino acids/oligopeptides

0.52

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Pathogenesis of ALS

Pathogenesis of ALS

1.00

Amyotrophic lateral sclerosis (ALS)

0.30

Neurotransmitter uptake and Metabolism In Glial Cells

Astrocytic Glutamate-Glutamine Uptake And Metabolism

1.00

Neurotransmitter uptake and Metabolism In Glial Cells

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SLC1A2

	Selected targets of ESR1
	Glutamic acid signaling

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC1A2

Pathogenesis of ALS

1 Cell Signaling Technology (CST) Pathway for SLC1A2

Neuroscience

5/8 Reactome Pathways for SLC1A2 (see all 8)

	Transmission across Chemical Synapses
	Neuronal System
	Neurotransmitter uptake and Metabolism In Glial Cells
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules

2 Kegg Pathways (Kegg details for SLC1A2):

	Glutamatergic synapse
	Amyotrophic lateral sclerosis (ALS)

SLC1A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC1A2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5/8 Interacting proteins for SLC1A2 (P43004^{2, 3} ENSP00000278379⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAPT	P10636²^,³, ENSP00000340820⁴	MINT-7148372 MINT-7148349 MINT-7148361 MINT-7148384 I2D: score=1 STRING: ENSP00000340820
AJUBA	Q96IF1³, ENSP00000262713⁴	I2D: score=2 STRING: ENSP00000262713
GRB2	P62993³, ENSP00000339007⁴	I2D: score=3 STRING: ENSP00000339007
DLG4	P78352³	I2D: score=1
GRIN2B	Q13224³	I2D: score=1

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	TAS	--
GO:0007268	synaptic transmission	TAS	7521911
GO:0007399	nervous system development	--	--
GO:0007632	visual behavior	IEA	--
GO:0009416	response to light stimulus	--	--

SLC1A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC1A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SLC1A2 available from Tocris Bioscience About this table

Compound	Action	CAS #
WAY 213613	Potent, non-substrate EAAT2 inhibitor	[868359-05-1]
SYM 2081	Highly selective kainate agonist	[31137-74-3]
Dihydrokainic acid	EAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake	[52497-36-6]
TFB-TBOA	High affinity EAAT1 and EAAT2 blocker	[480439-73-4]

1 HMDB Compound for SLC1A2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Sodium	Sodium (see all 2)	7440-23-5	--

1 DrugBank Compound for SLC1A2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	16959378 16718509 16855093 17088867

10/43 Novoseek chemical compound relationships for SLC1A2 gene (see all 43) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dihydrokainate	90.6	37	16137792 (2), 10548497 (2), 20423712 (2), 7521911 (2) (see all 16)
glutamate	89	459	11723166 (5), 9375696 (4), 16137792 (4), 18326497 (4) (see all 99)
l-serine o-sulfate	72.1	1	9614067 (1)
dl-threo-beta-benzyloxyaspartate	68.8	4	9463476 (2), 20423712 (1)
l-trans-pyrrolidine-2,4-dicarboxylic acid	66	1	16137792 (1)
aspartate	56.1	12	9605566 (3), 10812204 (3), 16371010 (1), 16836592 (1) (see all 6)
glutamine	55.9	15	16426705 (2), 20423712 (2), 14643001 (1), 12366822 (1) (see all 8)
pacap 38	43.5	2	17346813 (1), 17401678 (1)
cystine	41.8	3	12372536 (1), 11698255 (1)
nmda	41.2	16	19185209 (3), 10076929 (1), 17127000 (1), 17225169 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about SLC1A2 / EAA2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC1A2 gene (3 alternative transcripts):

NM_001195728.2 NM_001252652.1 NM_004171.3

Unigene Cluster for SLC1A2:

Solute carrier family 1 (glial high affinity glutamate transporter), member 2

Hs.502338 [show with all ESTs]

Unigene Representative Sequence: NM_004171

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000278379(uc001mwd.3 uc010rev.1) ENST00000395750(uc001mwe.3 uc021qfy.1)

ENST00000395753(uc021qfx.1) ENST00000464522 ENST00000479543 ENST00000531628

ENST00000449068

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Additional cDNA sequence:

AB209444.1 AF131756.1 AK054855.1 AK057674.1 AK090810.1 AK122843.1 AL157452.1 AY066021.1

BC031313.2 BC047052.1 BC132768.1 BX538155.1 BX648750.1 CR626999.1 CR627009.1 CR627022.1

CR749842.1 D85884.1 S83375.1 U01824.1 U03505.1 Z32517.1

9 DOTS entries:

DT.316334 DT.207546 DT.95165959 DT.91669681 DT.91892540 DT.120720581 DT.91692744 DT.92431485

DT.95165960

24/214 AceView cDNA sequences (see all 214):

AI990789 AI082712 T15997 CB161476 AA904135 F01536 F09979 AL708179

R15441 AL157452 AV704249 AA922731 T33174 BX538155 CD673490 BM738748

D85884 F03925 T33089 AI654538 AW768560 AA683391 AW005111 BF223790

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A2 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14
SP1:									-				-
SP2:							-		-		-
SP3:											-		-
SP4:							-		-		-		-

ECgene alternative splicing isoforms for SLC1A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC1A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCACATTA

About this image

SLC1A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC1A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC1A2

SOURCE GeneReport for Unigene cluster: Hs.502338

SABiosciences Expression via Pathway-Focused PCR Array including SLC1A2:

GABA & Glutamate in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC1A2 gene from 6/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC1A2¹	solute carrier family 1 (glial high affinity glutamate more	78.76(n) 88.77(a)		423156 NM_001012899.1 NP_001012917.1
lizard (Anolis carolinensis)	Reptilia	SLC1A2⁶	--	87(a)	1 ↔ 1	1(54745828-54792338)
zebrafish (Danio rerio)	Actinopterygii	wufj34b12²	wufj34b12	77.36(n)		335836 BC056751.1
fruit fly (Drosophila melanogaster)	Insecta	Eaat1³ Eaat2¹	sodium/excitatory glutamate cotransporter³ Excitatory amino acid transporter 2¹	43(a) (best of 2)³ 50.45(n)¹ 44.23(a)¹		33247¹ NM_001169373.1¹ NP_001162844.1¹
worm (Caenorhabditis elegans)	Secernentea	glt-2³ glt-1¹	excitatory amino acid transporter³ Protein GLT-1¹	62(a) (best of 6)³ 59.57(n)¹ 64.08(a)¹		X(3531387-3534184)³ 180641¹ NM_001029223.1¹ NP_001024394.1¹
E. coli (Escherichia coli)	Gamma proteobacteria	gltP⁶ dctA⁶ (see all 3)	glutamate/aspartate:proton symporter C4-dicarboxylic acid, orotate and citrate transpor... (see all 3)	24(a) 23(a) (see all 3)	possible ortholog possible ortholog (see all 3)	Chromosome(4292504-4293817) b4077 Chromosome(3680184-3681470) b3528

ENSEMBL Gene Tree for SLC1A2 (if available)
TreeFam Gene Tree for SLC1A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC1A2 gene

SLC1A3² SLC1A5² SLC1A7² SLC1A1² SLC1A4² SLC1A6²

6 SIMAP similar genes for SLC1A2 using alignment to 5 protein entries: EAA2_HUMAN (see all proteins):

SLC1A1 SLC1A3 SLC1A6 SLC1A7 SLC1A5 SLC1A4

SLC1A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7931233^1,2	C,	--	34971890(+)	`TGCACA/GATGTA`	3	--	ds500¹		0	--	--	--	--
rs115584504^1,2	C,F,	--	34972285(+)	`CAATTC/TAAAAA`	3	--	ut3¹		1		WA	118
rs11821067^1,2	C,F,H,	--	34972749(+)	`AATTAT/CACAGA`	3	--	ut3¹ ese³		6		NS EA NA WA	510
rs76595426^1,2	F,	--	34972775(+)	`GGCAAC/TTGTAA`	3	--	ut3¹		1		EA	120
rs115157264^1,2	C,F,	--	34973005(+)	`TTCACC/TTGCAG`	3	--	ut3¹		1		WA	118
rs12016674^1,2	H	--	34974517(+)	`CTGGGT/CTCTTA`	3	--	ut3¹ ese³		4		NS EA	408
rs79332637^1,2	C,	--	34975075(+)	`NNNNCT/GCTATA`	3	--	ut3¹		2		NA	122
rs115834945^1,2	C,F,	--	34975535(+)	`TCCAGA/GGAAAC`	3	--	ut3¹		1		WA	118
rs3812779^1,2	C,F,H,	--	34975763(-)	`TTTATC/TCTAAA`	3	--	ut3¹		9		EA NS NA	2050
rs113357134^1,2		--	34975963(+)	`AGTCTC/TCTCTG`	3	--	ut3¹		1		CSA	2

HapMap Linkage Disequilibrium report for SLC1A2 (35272752 - 35441610 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SLC1A2
1 CNV: 3845
1 Indel: 101181
Human Gene Mutation Database (HGMD): SLC1A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC1A2 for disorders           About GeneDecksing

OMIM gene information: 600300    OMIM disorders: --

20/59 diseases for SLC1A2 (see all 59):    About MalaCards

amyotrophic lateral sclerosis traumatic brain injury lateral sclerosis brain injury

ischemia aids dementia complex amyotrophic lateral sclerosis (als) schizophrenia

neuromyelitis optica periventricular leukomalacia spastic paraplegia temporal lobe epilepsy

idiopathic generalized epilepsy hereditary spastic paraplegia generalized epilepsy neuronitis

leukomalacia motor neuron disease absence epilepsy paraplegia

6 diseases from the University of Copenhagen DISEASES database for SLC1A2:

Amyotrophic lateral sclerosis Toxic encephalopathy Brain disease Vascular disease

Huntington's disease Hepatic encephalopathy

10/28 Novoseek disease relationships for SLC1A2 gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
amyotrophic lateral sclerosis	79.2	28	12153483 (2), 9593515 (2), 9771796 (2), 12752781 (2) (see all 20)
neurodegeneration	58.5	6	11790392 (1), 19061913 (1), 15869527 (1), 20153402 (1) (see all 6)
neurological disorders	54.1	4	15869527 (1), 18326497 (1), 17311293 (1), 15804404 (1)
gliosis	49	2	19151621 (1)
neurodegenerative diseases	48.5	4	9375696 (1), 17517448 (1), 12578975 (1), 9502218 (1)
epilepsy temporal lobe	45.6	3	10336123 (1), 18326497 (1)
huntington disease	41.9	1	9100675 (1)
motor neuron disease	41.7	3	9771796 (1), 12752781 (1)
alzheimers disease	40.3	6	20152809 (1), 18326497 (1), 9502218 (1), 11461977 (1) (see all 5)
glioma	36.9	15	15254085 (2), 12504589 (2), 17311293 (2), 16368696 (1) (see all 8)

Genetic Association Database (GAD): SLC1A2
Human Genome Epidemiology (HuGE) Navigator: SLC1A2 (15 documents)

Export disorders for SLC1A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC1A2 gene, integrated from 9 sources (see all 307):
(articles sorted by number of sources associating them with SLC1A2)

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Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia. (PubMed id 15296513)^{1, 4, 9} Deng X....Fukumaki Y. (2004)
Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PubMed id 7521911)^{1, 2, 9} Arriza J.L.... Amara S.G. (1994)
DL-threo-beta-benzyloxyaspartate, a potent blocker of excitatory amino acid transporters. (PubMed id 9463476)^{1, 2, 9} Shimamoto K.... Nakajima T. (1998)
A trimeric quaternary structure is conserved in bacterial and human glutamate transporters. (PubMed id 15265858)^{1, 2} Gendreau S.... Fahlke C. (2004)
Cloning and characterization of the 3'-untranslated region of the human excitatory amino acid transporter 2 transcript. (PubMed id 12950454)^{1, 2} Kim S.Y.... Volsky D.J. (2003)
Genetic variation of the glutamate transporter EAAT2 gene and vulnerability to alcohol dependence. (PubMed id 11204345)^{1, 4} Sander T....Schmidt L.G. (2000)
Cloning and characterization of a glutamate transporter cDNA from human brain and pancreas. (PubMed id 7522567)^{1, 2} Manfras B.J.... Boehm B.O. (1994)
Molecular cloning of human brain glutamate/aspartate transporter II. (PubMed id 8172925)^{1, 2} Shashidharan P.... Plaitakis A. (1994)
Regulation of the glutamate transporter EAAT2 by PIKf yve. (PubMed id 19910676)^{1, 9} Gehring E.M....Lang F. (2009)
Insights into glutamate transport regulation in human astrocytes: cloning of the promoter for excitatory amino acid transporter 2 (EAAT2). (PubMed id 12578975)^{1, 9} Su Z.Z....Fisher P.B. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6506	HGNC: 10940	AceView: SLC1A2	Ensembl:ENSG00000110436	euGenes: HUgn6506
ECgene: SLC1A2	Kegg: 6506	H-InvDB: SLC1A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC1A2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC1A2 gene
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Patent Information for SLC1A2 gene:
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