Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SLC6A13 Gene

protein-coding   GIFtS: 61
GCID: GC12M000329

Solute Carrier Family 6 (Neurotransmitter Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter, GABA),...)
  See SLC6A13-related disease
at  

(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

TryGeneCards Plus

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 131 2     GAT32 5
GAT22 3 5     GABA Transport Protein2
Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 131 2     Sodium- And Chloride-Dependent GABA Transporter 22
GABA Transporter 21 2     Solute Carrier Family 6 Member 133
GAT-22 3     

External Ids:    HGNC: 110461   Entrez Gene: 65402   Ensembl: ENSG000000103797   OMIM: 6150975   UniProtKB: Q9NSD53   

Export aliases for SLC6A13 gene to outside databases

Previous GC identifers: GC12M000184 GC12M000200


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

TryGeneCards Plus

GeneCards Summary for SLC6A13 Gene:
SLC6A13 (solute carrier family 6 (neurotransmitter transporter), member 13) is a protein-coding gene. Diseases associated with SLC6A13 include schizophrenia. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A6.

UniProtKB/Swiss-Prot: S6A13_HUMAN, Q9NSD5
Function: Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling
termination through GABA uptake. May also be involved in beta-alanine transport

summary for SLC6A13 Gene:
GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that
mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters
(GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2,
GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains,
extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular
transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and
functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some
anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA
transporters are linked to epilepsy, affective disorders and schizophrenia.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009759.17  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC6A13 gene promoter:
         STAT1   C/EBPbeta   p53   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-6   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A13 promoter sequence
   Search Chromatin IP Primers for SLC6A13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A13


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

Entrez Gene cytogenetic band: 12p13.3   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

SLC6A13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A13 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M000329:  view genomic region     (about GC identifiers)

Start:
329,789 bp from pter      End:
372,039 bp from pter
Size:
42,251 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: S6A13_HUMAN, Q9NSD5 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent GABA transporter 2  
Size: 602 amino acids; 68009 Da
Sequence caution: Sequence=AAF64247.1; Type=Frameshift; Positions=542;
Secondary accessions: B4DJL1 Q8TCC2 Q8WW56
Alternative splicing: 3 isoforms:  Q9NSD5-1   Q9NSD5-2   Q9NSD5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC6A13: NX_Q9NSD5

Explore proteomics data for SLC6A13 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn173, Asn269
  • Modification sites at PhosphoSitePlus

  • See SLC6A13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177926.1  NP_001230321.1  NP_057699.2  

    ENSEMBL proteins: 
     ENSP00000339260   ENSP00000444606   ENSP00000437386   ENSP00000443466   ENSP00000389316  
     ENSP00000407104  
    Reactome Protein details: Q9NSD5

    SLC6A13 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SLC6A13
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLC6A13
    GenScript Custom Purified and Recombinant Proteins Services for SLC6A13
    Novus Biologicals SLC6A13 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC6A13

     
    Search eBioscience for Proteins for SLC6A13 

     
    antibodies-online proteins for SLC6A13 

     
    antibodies-online peptides for SLC6A13

    SLC6A13 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC6A13
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLC6A13
    Novus Biologicals SLC6A13 Antibodies
    Abcam antibodies for SLC6A13
    Cloud-Clone Corp. Antibodies for SLC6A13
    Search ThermoFisher Antibodies for SLC6A13
    antibodies-online antibodies for SLC6A13 (17 products) 

    SLC6A13 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC6A13
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC6A13
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SLC6A13
    Cloud-Clone Corp. CLIAs for SLC6A13
    Search eBioscience for ELISAs for SLC6A13 
    antibodies-online kits for SLC6A13 (8 products) 


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

    TryGeneCards Plus
    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: GAT2
    GABA transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002981 Na/ntran_symport_GABA_GAT2

    Graphical View of Domain Structure for InterPro Entry Q9NSD5

    ProtoNet protein and cluster: Q9NSD5

    UniProtKB/Swiss-Prot: S6A13_HUMAN, Q9NSD5
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily


    Find genes that share domains with SLC6A13           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S6A13_HUMAN, Q9NSD5
    Function: Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling
    termination through GABA uptake. May also be involved in beta-alanine transport
    Biophysicochemical properties: Kinetic parameters: KM=3.7 uM for GABA; KM=20.2 uM for beta-alanine;

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0005332gamma-aminobutyric acid:sodium symporter activity IEA--
    GO:0042165neurotransmitter binding ----
         
    Find genes that share ontologies with SLC6A13           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc6a13):
     homeostasis/metabolism  no phenotypic analysis 

    Find genes that share phenotypes with SLC6A13           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc6a13tm1.2Ncd for SLC6A13

       genOway: Develop your customized and physiologically relevant rodent model for SLC6A13

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SLC6A13 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SLC6A13:
    hsa-miR-3673 hsa-miR-206 hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidSLC6A13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC6A13
    Predesigned siRNA for gene silencing in human, mouse, rat SLC6A13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC6A13

    Clone
    Products:
         
    OriGene clones in human, mouse for SLC6A13 (see all 9)
    OriGene ORF clones in mouse, rat for SLC6A13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC6A13 (NM_016615)
    Sino Biological Human cDNA Clone for SLC6A13
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC6A13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A13

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC6A13
    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC6A13 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A13


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    S6A13_HUMAN, Q9NSD5: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0016021integral component of membrane ----
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SLC6A13           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SLC6A13 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Benzodiazepine Pathway, Pharmacodynamics
    Benzodiazepine Pathway, Pharmacodynamics
    Reuptake of GABA0.00
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    Na+/Cl- dependent neurotransmitter transporters0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    GABA synthesis, release, reuptake and degradation0.00
    5Circadian entrainment
    GABAergic synapse0.53


    Find genes that share SuperPaths with SLC6A13           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for SLC6A13
        Na+/Cl- dependent neurotransmitter transporters
    Reuptake of GABA

    1 PharmGKB Pathway for SLC6A13
        Benzodiazepine Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for SLC6A13):
        GABAergic synapse

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC6A13: 
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC6A13

    1 Interacting protein for SLC6A13 (Q9NSD53) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBR4Q5T4S73I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006836neurotransmitter transport ----
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with SLC6A13           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SLC6A13 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    NNC 05-2090 hydrochlorideGABA uptake inhibitor; moderately BGT-1 selective[184845-43-0]
    Tiagabine hydrochlorideGABA uptake inhibitor; anticonvulsant[145821-59-6]
    SKF 89976A hydrochloridePotent GABA uptake inhibitor. Penetrates blood brain barrier[85375-15-1]
    (S)-SNAP 5114GABA uptake inhibitor[157604-55-2]
    NNC 711Selective inhibitor of GAT-1[145645-62-1]

    1 HMDB Compound for SLC6A13    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 IUPHAR Ligand for SLC6A13 (GAT2)    About this table
    LigandTypeActionAffinityPubmed IDs
    SNAP-5114
    InhibitorInhibition4.7--

    1 Novoseek inferred chemical compound relationship for SLC6A13 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 73.7 33 17502375 (5), 10443590 (2), 7854065 (2), 8583006 (2) (see all 12)



    Find genes that share compounds with SLC6A13           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SLC6A13 gene (3 alternative transcripts): 
    NM_001190997.2  NM_001243392.1  NM_016615.4  

    Unigene Cluster for SLC6A13:

    Solute carrier family 6 (neurotransmitter transporter, GABA), member 13
    Hs.504398  [show with all ESTs]
    Unigene Representative Sequence: NM_016615
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343164(uc009zdj.2 uc001qic.2 uc010sdm.1) ENST00000539668
    ENST00000542379 ENST00000543722 ENST00000542947 ENST00000546319 ENST00000536842
    ENST00000534887 ENST00000539260 ENST00000542272 ENST00000436453(uc001qid.2)
    ENST00000445055(uc010sdl.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC6A13 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SLC6A13:
    hsa-miR-3673 hsa-miR-206 hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidSLC6A13 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SLC6A13
    Predesigned siRNA for gene silencing in human, mouse, rat SLC6A13
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC6A13 (see all 9)
    OriGene ORF clones in mouse, rat for SLC6A13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC6A13 (NM_016615)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC6A13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A13
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC6A13
      QuantiTect SYBR Green Assays in human, mouse, rat SLC6A13
      QuantiFast Probe-based Assays in human, mouse, rat SLC6A13

    Additional mRNA sequence: 

    AF462445.1 AK295904.1 AK296127.1 AK313511.1 BC020867.1 BC022392.1 U76343.2 

    7 DOTS entries:

    DT.97839052  DT.40126672  DT.102825094  DT.100744217  DT.406188  DT.121149537  DT.99977092 

    Selected AceView cDNA sequences (see all 416):

    BM833997 AU134388 CA393612 AI253119 AA469935 AW268369 AK057703 R94969 
    BQ632596 AA906265 AI672662 AI569801 AI492362 AI634822 AI884688 BM728298 
    BI492632 BM709205 N80904 AI688215 BF196524 AI696637 AA470104 BC048307 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A13 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a ·
    SP1:                    -                 -                 -     -                                                     -     -                                 
    SP2:                    -                 -                 -     -                                                     -     -     -                           
    SP3:        -     -     -                                                                                                                                       
    SP4:        -     -     -                 -                                                                                                                     
    SP5:                    -     -     -     -     -     -     -     -                                                                                             

    ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SLC6A13

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SLC6A13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAGAAGG
    SLC6A13 Expression
    About this image


    SLC6A13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 8 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Eye (Sensory Organs)
             Lens
    SLC6A13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC6A13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504398

    UniProtKB/Swiss-Prot: S6A13_HUMAN, Q9NSD5
    Tissue specificity: Expressed in brain, kidney, lung, liver and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC6A13: 
              GABA & Glutamate in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC6A13
    QuantiTect SYBR Green Assays in human, mouse, rat SLC6A13
    QuantiFast Probe-based Assays in human, mouse, rat SLC6A13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A13

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for SLC6A13 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a131 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 88.04(n)1
    91.03(a)1
      6 (57.22 cM)5
    144121  NM_144512.21  NP_653095.11 
     1213002275 
    chicken
    (Gallus gallus)
    Aves LOC1008582301 sodium- and chloride-dependent GABA transporter 2-like 80.09(n)
    85.69(a)
      100858230  XM_003640400.2  XP_003640448.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A136
    solute carrier family 6 (neurotransmitter transpor...
    83(a)
    1 ↔ 1
    5(11824545-11877262)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686542 hypothetical protein MGC68654 79.5(n)    BC060418.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003325921 sodium- and chloride-dependent GABA transporter 2-like 71.66(n)
    75.85(a)
      100332592  XM_002667362.3  XP_002667408.3 


    ENSEMBL Gene Tree for SLC6A13 (if available)
    TreeFam Gene Tree for SLC6A13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SLC6A13 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A12  SLC6A32  
    SLC6A42  SLC6A22  SLC6A72  SLC6A92  
    Selected SIMAP similar genes for SLC6A13 using alignment to 4 protein entries:     S6A13_HUMAN (see all proteins) (see all similar genes):
    SLC6A12    SLC6A11    DAT1    SLC6A1    SLC6A6    SLC6A9
    5HTT    SLC6A2    SLC6A3    SLC6A8    SLC6A7    SLC6A4
    SLC6A5    SLC6A14    SLC6A15    SLC6A19    SLC6A18    SLC6A20

    Find genes that share paralogs with SLC6A13           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC6A13
    PGOHUM00000262332


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SLC6A13 (see all 1182)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866414661,2
    --329336(+) CTGGGA/GCGTGG 2 -- ds50010--------
    rs1919784461,2
    --329500(+) TCCTTA/CATGCG 2 -- ds50010--------
    rs730380711,2
    C--329539(+) CACAAA/GGGCGG 2 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1838980381,2
    --329679(+) ACTCAA/GTGGGG 2 -- ds50010--------
    rs1175291401,2
    F--329703(+) GGAGGG/AGCAGG 2 -- ds50011Minor allele frequency- A:0.06NA 120
    rs1170346191,2
    C,F--329767(+) CAGAAA/GTCAGA 2 -- ds50011Minor allele frequency- G:0.02NA 120
    rs1884598541,2
    --329792(+) GTCAGC/TGGGAA 2 -- ut310--------
    rs1931811251,2
    --329826(+) GGATGA/GGAGGG 2 -- ut310--------
    rs1844719691,2
    --329861(+) ACCTAA/CCAGCC 2 -- ut310--------
    rs777470271,2
    C,F--329865(+) ACCAGC/TCCCCA 2 -- ut311Minor allele frequency- T:0.10NA 120

    HapMap Linkage Disequilibrium report for SLC6A13 (329789 - 372039 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC6A13 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2252314CNV Deletion18987734
    nsv898560CNV Loss21882294
    esv34939CNV Loss17911159
    nsv898564CNV Loss21882294
    nsv570CNV Loss18451855
    nsv470253CNV Gain18288195
    nsv832302CNV Gain17160897
    nsv523142CNV Gain19592680
    nsv468947CNV Gain19166990
    nsv898557CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC6A13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A13
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A13

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

    TryGeneCards Plus
    OMIM gene information: 615097    OMIM disorders: --

    1 disease for SLC6A13:    
    About MalaCards
    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for SLC6A13:
    Focal epilepsy

    Find genes that share disorders with SLC6A13           About GenesLikeMe

    Genetic Association Database (GAD): SLC6A13
    Human Genome Epidemiology (HuGE) Navigator: SLC6A13 (12 documents)

    Export disorders for SLC6A13 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

    TryGeneCards Plus

    PubMed articles for SLC6A13 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with SLC6A13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2. (PubMed id 17502375)1, 2, 9 Christiansen B.... Braeuner-Osborne H. (J. Biol. Chem. 2007)
    2. Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter. (PubMed id 11824941)1, 2, 9 Gong Y.... Minuk G.Y. (Can. J. Physiol. Pharmacol. 2001)
    3. High selectivity of the gamma-aminobutyric acid transporter 2 (GAT-2, SLC6A13) revealed by structure-based approach. (PubMed id 22932902)1, 2 Schlessinger A.... Sali A. (J. Biol. Chem. 2012)
    4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    10. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 6540 HGNC: 11046 AceView: JARID1AandSLC6A13 Ensembl:ENSG00000010379 euGenes: HUgn6540
    ECgene: SLC6A13 Kegg: 6540 H-InvDB: SLC6A13

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SLC6A13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SLC6A13 gene:
    Search GeneIP for patents involving SLC6A13

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC6A13
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SLC6A13  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SLC6A13  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC6A13  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A13   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC6A13   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC6A13   OriGene Custom Protein Services for SLC6A13  

     
     
     Block miRNA regulation of human, mouse, rat SLC6A13 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SLC6A13
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A13 Predesigned siRNA for gene silencing in human, mouse, rat SLC6A13
     QuantiFast Probe-based Assays in human, mouse, rat SLC6A13 QuantiTect SYBR Green Assays in human, mouse, rat SLC6A13
     PCR Arrays including human, mouse, rat SLC6A13 Search Chromatin IP Primers for SLC6A13
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC6A13  Search GeneGlobe Interaction Network for SLC6A13
     Regulatory tfbs in SLC6A13 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SLC6A13 GenScript cDNA clones with any tag delivered in your preferred vector for SLC6A13
     GenScript Custom Assay Services for SLC6A13 GenScript Custom overexpressing Cell Line Services for SLC6A13
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Tocris compounds for SLC6A13
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SLC6A13
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SLC6A13 antibodies
     SLC6A13 proteins
     Antibodies for SLC6A13
     See all of Abcam's Antibodies, Kits and Proteins for SLC6A13
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SLC6A13
     Antibodies for SLC6A13
     ELISAs for SLC6A13
     CLIAs for SLC6A13



     Browse ESI BIO Cell Lines and PureStem Progenitors for SLC6A13
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A13
     SwitchGear 3'UTR luciferase reporter plasmids for SLC6A13
     SwitchGear Promoter luciferase reporter plasmids for SLC6A13
     Search ThermoFisher Antibodies for SLC6A13
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A13
     Browse compounds at ApexBio
     Search Addgene for plasmids for SLC6A13
      Search eBioscience for proteins for SLC6A13
      Search eBioscience for elisas for SLC6A13
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for SLC6A13
     antibodies-online antibodies for SLC6A13 (17 products)
     antibodies-online kits for SLC6A13 (8 products)
     antibodies-online peptides for SLC6A13
     antibodies-online proteins for SLC6A13
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SLC6A13 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4