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

SLC6A13 Gene

protein-coding   GIFtS: 61
GCID: GC12M000329

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

(Previous names: solute carrier family 6 (neurotransmitter transporter, GABA),...)
  See related diseases
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

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 131 2     GAT32
Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 131 2     GABA Transport Protein2
GABA Transporter 21 2     Sodium- And Chloride-Dependent GABA Transporter 22
GAT-22 3     Solute Carrier Family 6 Member 133
GAT22 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SLC6A13 Gene: 
SLC6A13 (solute carrier family 6 (neurotransmitter transporter), member 13) is a protein-coding gene. Diseases associated with SLC6A13 include focal epilepsy, and schizophrenia, and among its related super-pathways are Transmembrane transport of small molecules and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009759.16  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC6A13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: S6A13_HUMAN, Q9NSD5 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent GABA transporter 2  
Size: 602 amino acids; 68009 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NSD5

  • SLC6A13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A13 Protein Expression
    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
    Human Recombinant Protein Products for SLC6A13: 
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    Cloud-Clone Corp. Proteins for SLC6A13 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016021integral to membrane ----

    SLC6A13 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: 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


    SLC6A13 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: 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 (GO ID links to tree view):    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 IEA--
         
    SLC6A13 for ontologies           About GeneDecksing


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

    SLC6A13 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC6A13 
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    Inhib. RNA
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    (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 SLC6A13 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    4GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation0.53
    Neurotransmitter Release Cycle0.53
    5Circadian entrainment
    GABAergic synapse0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC6A13
        GABA signaling in brain


    5/10        Reactome Pathways for SLC6A13 (see all 10)
        Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Na+/Cl- dependent neurotransmitter transporters
    Amine compound SLC transporters
    Neurotransmitter Release Cycle

    1 PharmGKB Pathway for SLC6A13
        Benzodiazepine Pathway, Pharmacodynamics

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


    SLC6A13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    SLC6A13 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

    SLC6A13 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SLC6A13 / S6A13

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

    Unigene Clusters for SLC6A13:

    Solute carrier family 6 (neurotransmitter transporter, GABA), member 13
    Hs.504398  [show with all ESTs], Hs.733878  [show with all ESTs]
    Unigene Representative Sequences: NM_016615, DQ786244
    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)
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    Additional mRNA sequence: DQ786244.1 

    7 DOTS entries:

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

    24/416 AceView cDNA sequences (see all 416):

    AW292586 BM709205 CK825262 AA469935 BF475982 BM699315 BI492632 U25911 
    AW131815 BU615927 AW300068 BM717615 AA470104 AV707678 BQ933481 AW304389 
    AI797502 BQ956136 AL133026 AI671372 BC048307 CA867260 BM728298 AI253119 

    GeneLoc Exon Structure

    5/11 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™, 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

    SLC6A13 expression in normal human tissues (normalized intensities)      SLC6A13 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 13 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 7 entries
             visceral organ   
     
     Endothelium (Cardiovascular System)
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Eye (Sensory Organs)
             sensory organ/eye/lens   

    See SLC6A13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A13

    SOURCE GeneReport for Unigene clusters: Hs.504398 Hs.733878

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

        SABiosciences Expression via Pathway-Focused PCR Array including SLC6A13: 
              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 chordates.

    Orthologs for SLC6A13 gene from 5/14 species (see all 14)    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_003640400.1  XP_003640448.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A136
    Transporter
    82(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 73.77(n)
    78.69(a)
      100332592  XM_002667362.2  XP_002667408.2 


    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
    Paralogs for SLC6A13 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A32  SLC6A12  
    SLC6A42  SLC6A72  SLC6A22  SLC6A92  
    18/20 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

    SLC6A13 for paralogs           About GeneDecksing


    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) 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

    10/1182 SNPs in SLC6A13 are shown (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) 10/16 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615097    OMIM disorders: --

    7 diseases for SLC6A13:    About MalaCards
    focal epilepsy    schizophrenia    hyperparathyroidism    kidney disease
    alcoholism    cerebritis    neuronitis

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

    SLC6A13 for disorders           About GeneDecksing

    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

    PubMed articles for SLC6A13 gene, integrated from 9 sources (see all 34):
    (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. (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. (2001)
    3. High selectivity of the g-aminobutyric acid transporte r 2 (GAT-2, SLC6A13) revealed by structure-based approach. (PubMed id 22932902)1, 2 Schlessinger A....Sali A. (2012)
    4. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    5. 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)
    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. (2010)
    7. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    10. 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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      (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: 6540 HGNC: 11046 AceView: JARID1AandSLC6A13 Ensembl:ENSG00000010379 euGenes: HUgn6540
    ECgene: SLC6A13 Kegg: 6540 H-InvDB: SLC6A13

    (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 SLC6A13 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 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



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