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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC1A2 Gene

protein-coding   GIFtS: 67
GCID: GC11M035272

Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter),...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter),
Member 21 2
     Excitatory Amino Acid Transporter 22
EAAT22 3 5     Excitotoxic Amino Acid Transporter 22
Glutamate/Aspartate Transporter II2 3     GLT13
Sodium-Dependent Glutamate/Aspartate Transporter 22 3     Solute Carrier Family 1 Member 23
GLT-12     

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 Gene:
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)

GeneCards Summary for SLC1A2 Gene: 
SLC1A2 (solute carrier family 1 (glial high affinity glutamate transporter), member 2) is a protein-coding gene. Diseases associated with SLC1A2 include brain injury, and traumatic brain injury, and among its related super-pathways are Amyotrophic lateral sclerosis (ALS) and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include L-glutamate transmembrane transporter activity and glutamate:sodium symporter activity. An important paralog of this gene is SLC1A3.

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 Gene:
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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SLC1A2 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate
    uptake activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43004

  • SLC1A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC1A2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001182657.1  NP_001239581.1  NP_004162.2  

    ENSEMBL proteins: 
     ENSP00000278379   ENSP00000379099   ENSP00000379102   ENSP00000435406   ENSP00000476124  
     ENSP00000436029   ENSP00000406133  
    Reactome Protein details: P43004
    Human Recombinant Protein Products for SLC1A2: 
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    Novus Biologicals SLC1A2 Proteins
    Novus Biologicals SLC1A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS7521911
    GO:0016021integral to membrane IEA--
    GO:0030424axon ----
    GO:0030673axolemma IEA--

    SLC1A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Excitatory amino acid transporter 2 
    Glutamate transporter subfamily

    2 InterPro protein domains:
     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 domain: 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


    SLC1A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity TAS7521911
    GO:0005515protein binding IPI19527721
    GO:0015501glutamate:sodium symporter activity IEA--
    GO:0017153sodium:dicarboxylate symporter activity IEA--
         
    SLC1A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC1A2:
     Decreased TP53 protein express 

         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

    Animal Models:
         MGI mouse knock-out Slc1a2tm1Kta for SLC1A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC1A2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC1A2 
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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
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC1A2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    Pathogenesis of ALS0.31
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    4SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    5Neurotransmitter uptake and Metabolism In Glial Cells
    Astrocytic Glutamate-Glutamine Uptake And Metabolism1.00
    Neurotransmitter uptake and Metabolism In Glial Cells1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM 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 (P430042, 3 ENSP000002783794) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPTP106362, 3, ENSP000003408204MINT-7148372 MINT-7148349 MINT-7148361 MINT-7148384 I2D: score=1 STRING: ENSP00000340820
    AJUBAQ96IF13, ENSP000002627134I2D: score=2 STRING: ENSP00000262713
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    DLG4P783523I2D: score=1 
    GRIN2BQ132243I2D: score=1 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006835dicarboxylic acid transport ----
    GO:0007268synaptic transmission TAS7521911
    GO:0007399nervous system development ----
    GO:0007632visual behavior IEA--

    SLC1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundAction CAS #
    TFB-TBOAHigh affinity EAAT1 and EAAT2 blocker[480439-73-4]
    DL-TBOASelective non-transportable inhibitor of EAATs[205309-81-5]
    L-trans-2,4-PDC Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor[64769-66-0]
    WAY 213613 Potent, non-substrate EAAT2 inhibitor [868359-05-1]
    Dihydrokainic acidEAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake[52497-36-6]

    1 HMDB Compound for SLC1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC1A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--16959378 16718509 16855093 17088867

    9 IUPHAR Ligands for SLC1A2 (Excitatory amino acid transporter 2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [3H]ETB-TBOA
    NoneNone7.8--
    WAY-213613
    InhibitorInhibition6.9--
    DL-TBOA
    InhibitorInhibition6.99463476
    SYM2081
    InhibitorInhibition5.59145919
    dihydrokainate
    InhibitorInhibition5--
    threo-3-methylglutamate
    InhibitorInhibition4.79145919
    [3H]L-aspartic acid
    NoneNone4.7--
    [3H]D-aspartic acid
    NoneNone4.7--
    [3H](2S,4R)-4-methylglutamate
    NoneNone4.7--

    10/43 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    8 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 ENST00000606205
    ENST00000531628 ENST00000449068

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    Additional mRNA 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):

    F01536 F12361 AL133731 CB156529 N54714 AI002915 AI003305 CD673491 
    AA663820 CB152968 AA349968 BI824607 AL119616 AI637987 T33751 AI207884 
    CB157661 CB156572 AW590913 Z43105 AL120362 AL706922 AF131756 AU124528 

    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)      SLC1A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCACATTA
    SLC1A2 Expression
    About this image


    SLC1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Septum   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Spinal Cord (Nervous System)
             Dorsal Horn   
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule

    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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    (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 common ancestor of animals.

    Orthologs for SLC1A2 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc1a21 , 5 solute carrier family 1 (glial high affinity glutamate more1, 5 88.64(n)1
    95.45(a)1
      2 (54.13 cM)5
    205111  NM_001077514.31  NP_001070982.11 
     1026586595 
    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
    --
    --
    88(a)
    65(a)
    1 ↔ 1
    possible ortholog
    1(54662845-54792389)
    GL343355.1(211465-234237)
    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 


    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)
    About This Section
    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    SLC1A7    SLC1A3    SLC1A6    SLC1A4    SLC1A5

    SLC1A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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)
    About This Section

    10/3767 SNPs in SLC1A2 are shown (see all 3767)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38387961,2
    C--34998617(-) TAATT-/AGGGTC 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs358896721,2
    C--34999122(+) TTTTTT/-AGATG 3 -- int11Minor allele frequency- -:0.50NA 2
    rs1134498211,2
    C,F--35009427(+) ATGGTC/TTTTGG 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1475983711,2
    --35009466(+) GGTAAA/GTATAA 3 -- int10--------
    rs30464071,2
    C--35020484(-) TTCTT-/CTTNNTTT 3 -- cds10--------
    rs355841731,2
    C--35020486(+) AAAAA-/AAGAGAAC 3 -- cds10--------
    rs113440531,2
    C--35027988(+) TAGAG-/CCAGGC 3 -- int10--------
    rs106850021,2
    C--35032661(+) gagag-/AG/GG 
            
    ggagg
    3 -- int1 trp30--------
    rs721656941,2
    C--35055645(+) CCCTT-/AAGACAG 3 -- int10--------
    rs1433341381,2
    --35063274(+) GAGTG-/TTTTTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC1A2 (35272752 - 35441610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC1A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv269007CNV Insertion20981092
    nsv7733CNV Insertion18451855
    esv2602066CNV Insertion19546169
    nsv832120CNV Gain17160897
    essv13578CNV CNV17122850


    Human Gene Mutation Database (HGMD): SLC1A2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC1A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600300    OMIM disorders: --

    20/50 diseases for SLC1A2 (see all 50):    About MalaCards
    brain injury    traumatic brain injury    ischemia    periventricular leukomalacia
    hemimegalencephaly    leukomalacia    neuromyelitis optica    aids dementia complex
    lateral sclerosis    amyotrophic lateral sclerosis    brain edema    acute liver failure
    hepatic encephalopathy    motor neuron disease    temporal lobe epilepsy    schizophrenia
    idiopathic generalized epilepsy    dementia    essential tremor    hereditary spastic paraplegia

    5 diseases from the University of Copenhagen DISEASES database for SLC1A2:
    Amyotrophic lateral sclerosis     Toxic encephalopathy     Brain disease     Vascular disease
    Huntington's disease

    SLC1A2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/28 Novoseek inferred 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)
    About This Section

    PubMed articles for SLC1A2 gene, integrated from 9 sources (see all 315):
    (articles sorted by number of sources associating them with SLC1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. No genetic association between the SLC1A2 gene and Ja panese patients with schizophrenia. (PubMed id 19660525)1, 4, 9 Nagai Y....Arai H. (2009)
    2. 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)
    3. 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)
    4. DL-threo-beta-benzyloxyaspartate, a potent blocker of excitatory amino acid transporters. (PubMed id 9463476)1, 2, 9 Shimamoto K.... Nakajima T. (1998)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Analysis of 9p24 and 11p12-13 regions in autism spect rum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. (PubMed id 20410850)1, 4 KantojAorvi K....JAorvelAo I. (2010)
    7. Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (2010)
    8. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    9. Genome-wide association study of smoking initiation and current smoking. (PubMed id 19268276)1, 4 Vink J.M....Boomsma D.I. (2009)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6506 HGNC: 10940 AceView: SLC1A2 Ensembl:ENSG00000110436 euGenes: HUgn6506
    ECgene: SLC1A2 Kegg: 6506 H-InvDB: SLC1A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC1A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC1A2 gene:
    Search GeneIP for patents involving SLC1A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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