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SLC6A6 Gene

protein-coding   GIFtS: 62
GCID: GC03P014444

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

(Previous names: solute carrier family 6 (neurotransmitter transporter, taurine),...)
  See SLC6A6-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)
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Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 61 2
Solute Carrier Family 6 (Neurotransmitter Transporter, Taurine), Member 61 2
Taurine Transporter1 2
TAUT2 5
Sodium- And Chloride-Dependent Taurine Transporter2
Solute Carrier Family 6 Member 63

External Ids:    HGNC: 110521   Entrez Gene: 65332   Ensembl: ENSG000001313897   OMIM: 1868545   UniProtKB: P316413   

Export aliases for SLC6A6 gene to outside databases

Previous GC identifers: GC03P014373 GC03P014419 GC03P014380


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC6A6 Gene:
This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent
transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on
chromosome 21. Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for SLC6A6 Gene:
SLC6A6 (solute carrier family 6 (neurotransmitter transporter), member 6) is a protein-coding gene. Diseases associated with SLC6A6 include myofascial pain syndrome. GO annotations related to this gene include neurotransmitter:sodium symporter activity and taurine:sodium symporter activity. An important paralog of this gene is SLC6A11.

UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641
Function: Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake

Gene Wiki entry for SLC6A6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC6A6 gene promoter:
         SRF   SRF (504 AA)   MyoD   E2F-2   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC6A6 promoter sequence
   Search Chromatin IP Primers for SLC6A6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A6


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

Entrez Gene cytogenetic band: 3p25.1   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25.1

SLC6A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A6 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P014444:  view genomic region     (about GC identifiers)

Start:
14,444,076 bp from pter      End:
14,530,857 bp from pter
Size:
86,782 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent taurine transporter  
Size: 620 amino acids; 69830 Da
Secondary accessions: B2RNU7 Q9BRI2 Q9BXB0
Alternative splicing: 2 isoforms:  P31641-1   P31641-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC6A6: NX_P31641

Explore proteomics data for SLC6A6 at MOPED

Post-translational modifications: 

  • Down-regulated upon Ser-322 phosphorylation (By similarity)1
  • Ubiquitination2 at Lys610
  • Glycosylation2 at Asn163, Asn179, Asn190
  • Modification sites at PhosphoSitePlus

  • See SLC6A6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001127839.1  NP_001127840.1  NP_003034.2  

    ENSEMBL proteins: 
     ENSP00000416199   ENSP00000398063   ENSP00000388755   ENSP00000401167   ENSP00000399790  
     ENSP00000402059   ENSP00000399522   ENSP00000354107  
    Reactome Protein details: P31641

    SLC6A6 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for SLC6A6 


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

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

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002434 Na/ntran_symport_taurine

    Graphical View of Domain Structure for InterPro Entry P31641

    ProtoNet protein and cluster: P31641

    1 Blocks protein domain: IPB002434 Taurine transporter signature

    UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily


    Find genes that share domains with SLC6A6           About GenesLikeMe


    (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,
    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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC6A6_HUMAN, P31641
    Function: Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake

         Genatlas biochemistry entry for SLC6A6:
    solute carrier family 6,member A6,neurotansmitter transporter,taurine

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0005368taurine transmembrane transporter activity ----
    GO:0005369taurine:sodium symporter activity IEA--
    GO:0030977taurine binding IEA--
         
    Find genes that share ontologies with SLC6A6           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc6a6):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  muscle 
     nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with SLC6A6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC6A6: Slc6a6tm1Dhau Slc6a6tm1Jaz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC6A6
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SC6A6_HUMAN, P31641: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 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 TAS8010975

    Find genes that share ontologies with SLC6A6           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).
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    SuperPaths for SLC6A6 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Amino acid transport across the plasma membrane0.32
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Na+/Cl- dependent neurotransmitter transporters0.00
    2Selected targets of p53
    Selected targets of p53


    Find genes that share SuperPaths with SLC6A6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SLC6A6
        Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane


        Pathway & Disease-focused RT2 Profiler PCR Array including SLC6A6: 
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC6A6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC6A6 (ENSP000003541074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process TAS8010975
    GO:0006810transport TAS8010975
    GO:0006811ion transport TAS--
    GO:0006836neurotransmitter transport ----
    GO:0006865amino acid transport TAS--

    Find genes that share ontologies with SLC6A6           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)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC6A6 (SC6A6)

    3 HMDB Compounds for SLC6A6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    SodiumSodium (see all 2)7440-23-5--
    Taurine1-Aminoethane-2-sulfonate (see all 14)107-35-7--

    Selected Novoseek inferred chemical compound relationships for SLC6A6 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taurine 90.3 100 16734743 (4), 12871209 (4), 19074966 (4), 10936171 (3) (see all 37)
    cysteine sulfinic acid 81.1 4 10936171 (1), 11008216 (1), 12905652 (1), 14992266 (1)
    beta-alanine 75.7 6 17137607 (1), 19074966 (1)
    betaine 64.9 6 15304091 (3), 18557924 (1), 18020950 (1), 11008216 (1)
    inositol 59.8 7 15304091 (3), 18557924 (1), 17105721 (1), 18020950 (1) (see all 5)
    aldose 51.3 5 19602579 (2), 11008216 (1)
    mannitol 38 1 14744916 (1)
    gaba 28.2 7 15304091 (3), 18557924 (1), 15155838 (1)
    cysteine 27.3 4 10936171 (1), 12871209 (1), 11008216 (1), 14992266 (1)
    nacl 14.2 2 14744916 (1), 11008216 (1)



    Find genes that share compounds with SLC6A6           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 )
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    REFSEQ mRNAs for SLC6A6 gene (3 alternative transcripts): 
    NM_001134367.2  NM_001134368.2  NM_003043.4  

    Unigene Cluster for SLC6A6:

    Solute carrier family 6 (neurotransmitter transporter, taurine), member 6
    Hs.529488  [show with all ESTs]
    Unigene Representative Sequence: NM_003043
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490683 ENST00000427436 ENST00000454876(uc010heg.3) ENST00000458124
    ENST00000416216(uc003byp.3) ENST00000428884(uc010hee.1) ENST00000435095(uc010hef.1)
    ENST00000484191 ENST00000452775 ENST00000452151 ENST00000360861(uc003byq.3 uc003byr.3)

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    Additional mRNA sequence: 

    AF346763.1 AK303649.1 AK307284.1 AK308417.1 AK309534.1 BC006252.2 BC111489.1 BC137128.1 
    BC137129.1 BC144490.1 U09220.1 U16120.1 Z18956.1 

    9 DOTS entries:

    DT.402689  DT.408313  DT.75151294  DT.120889187  DT.40131064  DT.75106194  DT.97784561  DT.91654664 
    DT.95360476 

    Selected AceView cDNA sequences (see all 123):

    BM263526 AI570367 U09220 BU146209 AI245245 BX509830 BX642456 BM740603 
    AI886637 AI564469 AA716511 BM738408 AW665907 BU684633 BM981004 AW043964 
    AF346763 BM932087 AW003795 BG150265 CA448606 AW591874 BX478649 AI816743 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A6    About this scheme

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


    ECgene alternative splicing isoforms for SLC6A6

    (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)
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    SLC6A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATAAACA
    SLC6A6 Expression
    About this image


    SLC6A6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    SLC6A6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC6A6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529488

    UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641
    Tissue specificity: Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain,
    lung, kidney and pancreas and at low levels in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC6A6: 
              Osmotic Stress in human mouse rat

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a61 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 90.16(n)1
    93.39(a)1
      6 (40.73 cM)5
    213661  NM_009320.41  NP_033346.21 
     916840675 
    chicken
    (Gallus gallus)
    Aves SLC6A61 solute carrier family 6 (neurotransmitter transporter, more 81.22(n)
    85.62(a)
      416041  NM_001030600.1  NP_001025771.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A66
    solute carrier family 6 (neurotransmitter transpor...
    79(a)
    1 ↔ 1
    2(169742197-169800822)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc6a61 solute carrier family 6 (neurotransmitter transporter, more 77.65(n)
    82.63(a)
      100494063  XM_004914117.1  XP_004914174.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570479422   -- 74.73(n)    57047942 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17323 GABA:sodium symporter 54(a)
    (best of 4)
      102C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea snf-113 Na(+)/Cl(-)-dependent GABA transporter 48(a)
    (best of 6)
      V(11307950-11311658)   --


    ENSEMBL Gene Tree for SLC6A6 (if available)
    TreeFam Gene Tree for SLC6A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC6A6 gene
    SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A12  SLC6A32  SLC6A42  
    SLC6A132  SLC6A22  SLC6A72  SLC6A92  
    Selected SIMAP similar genes for SLC6A6 using alignment to 5 protein entries:     SC6A6_HUMAN (see all proteins) (see all similar genes):
    DAT1    SLC6A12    SLC6A11    SLC6A8    SLC6A1    SLC6A3
    SLC6A13    SLC6A7    SLC6A2    SLC6A9    SLC6A5    SLC6A4
    5HTT    SLC6A14    SLC6A20    SLC6A15    SLC6A18    DKFZp761I0921

    Find genes that share paralogs with SLC6A6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC6A6
    PGOHUM00000239149


    (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)
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    Selected SNPs for SLC6A6 (see all 1892)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46851541,2
    C,F,A,H--14377750(+) CGGCAC/GGCACC 1 -- us2k114Minor allele frequency- G:0.27NS EA NA WA 768
    rs1840677711,2
    --14377896(+) TGTGCA/GACCAC 1 -- us2k10--------
    rs1897669181,2
    --14377914(+) CAGGGC/TGTCTG 1 -- us2k10--------
    rs46851551,2
    C,F,H--14377941(+) CGTCTG/ATTCCT 1 -- us2k131Minor allele frequency- A:0.36NS EA NA WA CSA 3135
    rs780037371,2
    C,F--14378161(+) CCACCC/TGGGGC 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1468087831,2
    C--14378169(+) GGCCCA/GCAGAG 1 -- us2k10--------
    rs1927779171,2
    --14378235(+) TCTGTC/TTTGGC 1 -- us2k10--------
    rs1403442551,2
    C--14378339(+) TTAGCA/GTCCTG 1 -- us2k10--------
    rs622318261,2
    C,F--14378343(+) CATCCT/CGGGGC 1 -- us2k14Minor allele frequency- C:0.08NA 126
    rs1147590801,2
    C,F--14378362(+) GAGAGT/CGGCTG 1 -- us2k12Minor allele frequency- C:0.07WA EA 238

    HapMap Linkage Disequilibrium report for SLC6A6 (14444076 - 14530857 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SLC6A6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724958CNV Deletion23290073
    esv2724957CNV Deletion23290073
    esv2724945CNV Deletion23290073
    nsv3712CNV Insertion18451855
    nsv876550CNV Loss21882294
    nsv876571CNV Loss21882294
    nsv834619CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A6
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 186854    OMIM disorders: --

    1 disease for SLC6A6:    
    About MalaCards
    myofascial pain syndrome

    1 disease from the University of Copenhagen DISEASES database for SLC6A6:
    Myofascial pain syndrome

    Find genes that share disorders with SLC6A6           About GenesLikeMe

    4 Novoseek inferred disease relationships for SLC6A6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wilms tumor 31.3 1 12681485 (1)
    necrosis 0 1 15630186 (1)
    shock 0 2 16772300 (1), 12908596 (1)
    tumors 0 3 12908596 (2), 15630186 (1)

    Genetic Association Database (GAD): SLC6A6
    Human Genome Epidemiology (HuGE) Navigator: SLC6A6 (1 document)

    Export disorders for SLC6A6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC6A6 gene, integrated from 10 sources (see all 78):
    (articles sorted by number of sources associating them with SLC6A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. (PubMed id 8010975)1, 2, 3 Ramamoorthy S.... Ganapathy V. (Biochem. J. 1994)
    2. Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells. (PubMed id 8382624)1, 2, 3 Jhiang S.M....Mazzaferri E.L. (FEBS Lett. 1993)
    3. 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)
    4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    5. Isolation of a cDNA encoding a taurine transporter in the human retinal pigment epithelium. (PubMed id 8654117)1, 2 Miyamoto Y.... Sprinkle T.J. (Curr. Eye Res. 1996)
    6. Functional TauT protects against acute kidney injury. (PubMed id 19423693)1, 9 Han X....Chesney R.W. (J. Am. Soc. Nephrol. 2009)
    7. Finding of TRE (TPA responsive element) in the sequence of human taurine transporter promoter. (PubMed id 12908596)1, 9 Park K.K....Park T. (Adv. Exp. Med. Biol. 2003)
    8. Human placental taurine transporter in uncomplicated and IUGR pregnancies: cellular localization, protein expression, and regulation. (PubMed id 15166008)1, 9 Roos S....Jansson T. (Am. J. Physiol. Regul. Integr. Comp. Physiol. 2004)
    9. Functional characterization and regulation of the taurine transporter and cysteine dioxygenase in human hepatoblastoma HepG2 cells. (PubMed id 12871209)1, 9 Satsu H....Shimizu M. (Biochem. J. 2003)
    10. Expression of taurine transporter is regulated through the TonE (tonicity-responsive element)/TonEBP (TonE-binding protein) pathway and contributes to cytoprotection in HepG2 cells. (PubMed id 15142033)1, 9 Ito T....Azuma J. (Biochem. J. 2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6533 HGNC: 11052 AceView: SLC6A6 Ensembl:ENSG00000131389 euGenes: HUgn6533
    ECgene: SLC6A6 H-InvDB: SLC6A6

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for SLC6A6 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SLC6A6 gene:
    Search GeneIP for patents involving SLC6A6

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



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