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

SLC6A12 Gene

protein-coding   GIFtS: 62
GCID: GC12M000299

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

(Previous names: solute carrier family 6 (neurotransmitter transporter, betaine/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 121 2     BGT12
Solute Carrier Family 6 (Neurotransmitter Transporter, Betaine/GABA),
Member 121 2
     GAT22
Betaine/GABA Transporter-11 2     Gamma-Aminobutyric Acid Transporter2
BGT-12 3     Sodium- And Chloride-Dependent Betaine Transporter2
Na(+)/Cl(-) Betaine/GABA Transporter2 3     Solute Carrier Family 6 Member 123

External Ids:    HGNC: 110451   Entrez Gene: 65392   Ensembl: ENSG000001111817   OMIM: 6030805   UniProtKB: P480653   

Export aliases for SLC6A12 gene to outside databases

Previous GC identifers: GC12M000153 GC12M000169


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

GeneCards Summary for SLC6A12 Gene: 
SLC6A12 (solute carrier family 6 (neurotransmitter transporter), member 12) is a protein-coding gene. Diseases associated with SLC6A12 include schizophrenia, and hyperparathyroidism, and among its related super-pathways are Amino acid transport across the plasma membrane and Transmembrane transport of small molecules. 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: S6A12_HUMAN, P48065
Function: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain
through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation

summary for SLC6A12 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 SLC6A12 gene promoter:
         AREB6   Tal-1   YY1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A12 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A12


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

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

SLC6A12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A12 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M000299:  view genomic region     (about GC identifiers)

Start:
299,243 bp from pter      End:
323,736 bp from pter
Size:
24,494 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: S6A12_HUMAN, P48065 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent betaine transporter  
Size: 614 amino acids; 69368 Da
Subunit: Interacts with LIN7C (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A0AV52 B2R992 D3DUN8

Explore the universe of human proteins at neXtProt for SLC6A12: NX_P48065

Explore proteomics data for SLC6A12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48065

  • SLC6A12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A12 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001116319.1  NP_001116320.1  NP_001193860.1  NP_003035.3  

    ENSEMBL proteins: 
     ENSP00000352702   ENSP00000399136   ENSP00000444268   ENSP00000439351   ENSP00000446082  
     ENSP00000380464   ENSP00000388184  
    Reactome Protein details: P48065
    Human Recombinant Protein Products for SLC6A12: 
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    Cloud-Clone Corp. Proteins for SLC6A12 

    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 TAS7861179

    SLC6A12 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: BGT1 
    GABA transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002983 Na/ntran_symport_betaine

    Graphical View of Domain Structure for InterPro Entry P48065

    ProtoNet protein and cluster: P48065

    1 Blocks protein domain: IPB002983 Betaine transporter signature

    UniProtKB/Swiss-Prot: S6A12_HUMAN, P48065
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily


    SLC6A12 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: S6A12_HUMAN, P48065
    Function: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain
    through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation

         Genatlas biochemistry entry for SLC6A12:
    solute carrier family 6,member A12,neurotransmitter transporter,betaine/GABA,expressed in brain,kidney,activated
    by tonicity responsive enhancers (TONE1-TONE2),located in the 5'flanking region of the gene

         Gene Ontology (GO): 2 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--
         
    SLC6A12 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Slc6a12):
     behavior/neurological 

    SLC6A12 for phenotypes           About GeneDecksing

    Animal Models:
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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 SLC6A12 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2SLC-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
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    4Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    5GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation0.53
    Neurotransmitter Release Cycle0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/13        Reactome Pathways for SLC6A12 (see all 13)
        Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane
    Amine compound SLC transporters

    1 PharmGKB Pathway for SLC6A12
        Benzodiazepine Pathway, Pharmacodynamics


    SLC6A12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC6A12

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SLC6A12 (P480653 ENSP000003527024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIN7AO149103, ENSP000002612034I2D: score=1 STRING: ENSP00000261203
    ERBB2IPQ96RT13I2D: score=1 
    SCRIBENSP000003494864STRING: ENSP00000349486
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7861179
    GO:0006811ion transport TAS--
    GO:0006836neurotransmitter transport ----
    GO:0006865amino acid transport TAS--
    GO:0007268synaptic transmission TAS--

    SLC6A12 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

    SLC6A12 for compounds           About GeneDecksing

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

    Compounds for SLC6A12 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]

    2 HMDB Compounds for SLC6A12    About this table
    CompoundSynonyms CAS #PubMed Ids
    Betaine(Carboxymethyl)trimethylammonium hydroxide inner salt (see all 31)107-43-711380820
    SodiumSodium (see all 2)7440-23-5--

    4 IUPHAR Ligands for SLC6A12 (BGT1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    NNC052090
    InhibitorInhibition5.6--
    (R/S) EF-1500
    InhibitorInhibition4.9--
    LU32-176B
    InhibitorInhibition4--
    (R/S)-EF-1502
    InhibitorInhibition4--

    7 Novoseek inferred chemical compound relationships for SLC6A12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    betaine 83.5 25 15322381 (2), 15452713 (2), 7861179 (2), 9633613 (2) (see all 14)
    gaba 81.8 50 8443569 (3), 8710929 (2), 7861179 (2), 12351264 (2) (see all 39)
    nacl 21.7 6 15173573 (2), 18056707 (1), 9633613 (1), 16303854 (1)
    dopamine 19.4 6 12351264 (2), 7936402 (1), 10196144 (1), 15518916 (1) (see all 5)
    norepinephrine 16.8 6 12351264 (2), 8710929 (1), 16798738 (1)
    aspartate 4.56 1 15518916 (1)
    glutamate 1.07 1 15518916 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A12 / S6A12

    (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 SLC6A12 gene (4 alternative transcripts): 
    NM_001122847.2  NM_001122848.2  NM_001206931.1  NM_003044.4  

    Unigene Cluster for SLC6A12:

    Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
    Hs.437174  [show with all ESTs]
    Unigene Representative Sequence: AK125026
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359674(uc001qia.3) ENST00000545058(uc001qhy.3) ENST00000424061(uc001qhz.3)
    ENST00000536824 ENST00000542825 ENST00000535498 ENST00000544782 ENST00000538272
    ENST00000540094 ENST00000538580 ENST00000536116 ENST00000537793 ENST00000535347
    ENST00000537826 ENST00000538424 ENST00000397296 ENST00000428720(uc001qib.3 uc009zdh.2 uc009zdi.1)

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    Additional mRNA sequence: 

    AK096046.1 AK125026.1 AK131564.1 AK307167.1 AK313690.1 BC026339.1 BC036838.1 BC126215.1 
    BC126217.1 L42300.1 U27699.1 

    7 DOTS entries:

    DT.101981353  DT.211995  DT.92418324  DT.102836008  DT.121215623  DT.65287240  DT.121215610 

    24/55 AceView cDNA sequences (see all 55):

    BX355588 BC036838 BI756400 AU131194 AI624051 CR608440 AK131564 BX107444 
    AK125026 AI627338 BG568745 BV191302 U27699 AW136740 BV199105 CD370113 
    BX369849 L42300 N49856 BC026339 NM_003044 BG054689 BX355587 AW439465 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A12 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:              -     -           -     -           -                       -                       -           -                                             
    SP2:                                -                 -                       -                       -           -                                             
    SP3:                                                                                                                                      -     -     -         
    SP4:                                                                                            -     -           -                                             
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SLC6A12

    (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

    SLC6A12 expression in normal human tissues (normalized intensities)      SLC6A12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC6A12 Expression
    About this image


    SLC6A12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Conventional Dendritic Cells II Spleen
             alveolar macrophages   
     
     Eye (Sensory Organs)
             AII Amacrine Cells Inner Nuclear Layer
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See SLC6A12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A12

    SOURCE GeneReport for Unigene cluster: Hs.437174

    UniProtKB/Swiss-Prot: S6A12_HUMAN, P48065
    Tissue specificity: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC6A12: 
              GABA & Glutamate in human mouse rat
              Osmotic Stress 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 SLC6A12 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a121 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 85.99(n)1
    87.79(a)1
      6 (57.25 cM)5
    144111  NM_133661.31  NP_598422.21 
     1213430765 
    chicken
    (Gallus gallus)
    Aves SLC6A131 solute carrier family 6 (neurotransmitter transporter, more 72.3(n)
    73.34(a)
      418147  XM_416378.3  XP_416378.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A126
    Transporter
    75(a)
    1 ↔ 1
    5(11741978-11777904)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.257682 Transcribed sequence with weak similarity to protein more 76.69(n)    CA474242.1 


    ENSEMBL Gene Tree for SLC6A12 (if available)
    TreeFam Gene Tree for SLC6A12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A12 gene
    SLC6A62  SLC6A112  SLC6A82  SLC6A52  SLC6A142  SLC6A32  SLC6A12  SLC6A42  
    SLC6A132  SLC6A72  SLC6A22  SLC6A92  
    18/20 SIMAP similar genes for SLC6A12 using alignment to 3 protein entries:     S6A12_HUMAN (see all proteins) (see all similar genes):
    SLC6A13    SLC6A11    SLC6A6    DAT1    SLC6A8    SLC6A3
    SLC6A4    SLC6A1    SLC6A2    SLC6A7    5HTT    SLC6A9
    SLC6A14    SLC6A5    SLC6A15    SLC6A19    SLC6A20    SLC6A18

    SLC6A12 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

    10/792 SNPs in SLC6A12 are shown (see all 792)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819253111,2
    Cuntested1310005(+) TTTGCA/GTCTGT 4 -- int10--------
    rs4956551,2
    C,F,A,H--298782(+) CCTTGT/ACCCAG 4 -- ds5001 int114Minor allele frequency- A:0.10MN NA WA CSA EA 560
    rs755728471,2
    C,F--298877(+) CCTGCC/TTCCTC 4 -- ds5001 int14Minor allele frequency- T:0.09CSA WA NA EA 360
    rs1406083121,2
    --298924(+) GGACTC/TGGTAG 4 -- ds5001 int10--------
    rs357080121,2
    C--299009(+) CCCCC-/TGGGAC 4 -- ds5001 int11Minor allele frequency- T:0.00CSA 2
    rs1460261441,2
    --299017(+) GACACG/TCTCAC 4 -- ds5001 int10--------
    rs5159321,2
    C,F,O,A,H--299043(+) CGTGGG/AGGAAT 4 -- ds5001 int126Minor allele frequency- A:0.48MN NS EA NA CSA WA 2950
    rs1477097841,2
    C--299213(+) TCAAC-/AGA   
       AACGG
    AGCAA
    4 -- ds5001 int10--------
    rs1155311551,2
    F--299244(+) AGCACG/ACATGG 4 -- ut311Minor allele frequency- A:0.01WA 118
    rs1909572561,2
    --299271(+) ACTTGA/TTAACT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC6A12 (299243 - 323736 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for SLC6A12 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2319687CNV Deletion18987734
    esv1501218CNV Insertion17803354
    esv2627142CNV Insertion19546169
    esv1221367CNV Insertion17803354
    nsv569CNV Loss18451855
    nsv898560CNV Loss21882294
    dgv87n21CNV Loss19592680
    nsv898562CNV Loss21882294
    nsv898559CNV Loss21882294
    nsv832302CNV Gain17160897


    Human Gene Mutation Database (HGMD): SLC6A12
    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: 603080    OMIM disorders: --

    9 diseases for SLC6A12:    About MalaCards
    schizophrenia    hyperparathyroidism    neuronitis    kidney disease
    astrocytoma    asthma    cerebritis    alzheimer's disease
    hepatitis


    SLC6A12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC6A12
    Human Genome Epidemiology (HuGE) Navigator: SLC6A12 (5 documents)

    Export disorders for SLC6A12 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 SLC6A12 gene, integrated from 9 sources (see all 72):
    (articles sorted by number of sources associating them with SLC6A12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. (PubMed id 7589472)1, 2, 3, 9 Rasola A.... Bagnasco S. (1995)
    2. Cloning and expression of a betaine/GABA transporter from human brain. (PubMed id 7861179)1, 2, 9 Borden L.A....Weinshank R.L. (1995)
    3. Association of SLC6A12 variants with aspirin-intolera nt asthma in a Korean population. (PubMed id 20597903)1, 4 Pasaje C.F....Shin H.D. (2010)
    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. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (2009)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Genetic variants associated with glycine metabolism an d their role in insulin sensitivity and type 2 diabetes. (PubMed id 23378610)1 Xie W....Walker M. (2013)
    9. Up-regulation of the betaine/GABA transporter BGT1 by JAK2. (PubMed id 22405821)1 Hosseinzadeh Z....Lang F. (2012)
    10. Association between the SLC6A12 gene and negative sym ptoms of schizophrenia in a Korean population. (PubMed id 21367462)1 Park H.J....Song J.Y. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 6539 HGNC: 11045 AceView: SLC6A12 Ensembl:ENSG00000111181 euGenes: HUgn6539
    ECgene: SLC6A12 H-InvDB: SLC6A12

    (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 SLC6A12 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 SLC6A12 gene:
    Search GeneIP for patents involving SLC6A12

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



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