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GIFtS

SLC6A6 Gene

protein-coding   GIFtS: 57
GCID: GC03P014444

solute carrier family 6 (neurotransmitter transporter, taurine),...
 Explore 15 diseases affiliated with
SLC6A6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC6A6    

Aliases
for SLC6A6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter, Taurine), Member
61 2
TAUT1 2 5
Solute Carrier Family 6 Member 62 3
Sodium- And Chloride-Dependent Taurine Transporter2

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


Summaries
for SLC6A6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC6A6:
Taurine (2-aminoethanesulfonic acid) is a major intracellular amino acid in mammals. It is involved in a number of
important physiologic processes, including bile acid conjugation in hepatocytes, modulation of calcium flux and neural
excitability, osmoregulation, detoxification, and membrane stabilization. The cells of most organisms respond to
hypertonicity by the intracellular accumulation of high concentrations of small organic solutes (osmolytes) that, in
contrast to high concentrations of electrolytes, do not perturb the function of macromolecules. The renal medulla is
normally the only tissue in mammals that undergoes wide shifts in tonicity. Its hypertonicity when the kidney is
excreting a concentrated urine is fundamental to water conservation. The taurine content of the renal medulla of rats
infused with 5% NaCl is higher than that in controls, suggesting that taurine behaves as an osmolyte in the renal
medulla. Indeed, taurine functions as an osmolyte in Madin-Darby canine kidney (MDCK) cells. When MDCK cells cultured
in isotonic medium are switched to hypertonic medium, their content of taurine doubles through the taking up of
taurine from the medium. Taurine transport in these cells is dependent on sodium and chloride ions and is localized
primarily in the basolateral plasma membrane (summary by Uchida et al., 1992 (PubMed 1518851)).(supplied by OMIM, Jan
2011)

UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641
Function: Required for the uptake of taurine. Transports both taurine and beta-alanine which requires sodium ions.
Chloride ions are necessary for optimal uptake

Gene Wiki entry for SLC6A6


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC6A6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC6A6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent taurine transporter  
Size: 620 amino acids; 69830 Da
Subcellular location: Membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • Down-regulated upon Ser-322 phosphorylation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31641

    • SLC6A6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC6A6

    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 TAS8010975


    SLC6A6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC6A6

    Protein Domains /
    Families
    for SLC6A6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC6A6 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SLC6A6 gene

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

         UniProtKB/Swiss-Prot: SC6A6_HUMAN, P31641
    Function: Required for the uptake of taurine. Transports both taurine and beta-alanine which requires sodium ions.
    Chloride ions are necessary for optimal uptake

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

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    hsa-miR-140-5p hsa-miR-100* hsa-miR-607 hsa-miR-3194-5p hsa-miR-3607-3p hsa-miR-128 hsa-miR-30d hsa-miR-30a
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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--


    SLC6A6 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SLC6A6: Slc6a6tm1Dhau Slc6a6tm1Jaz
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Slc6a6):
     cardiovascular system  growth/size  homeostasis/metabolism  muscle  nervous system 
     reproductive system  vision/eye 

    SLC6A6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC6A6 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    		Amino acid and oligopeptide SLC transporters1.00
    		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 transport1.00
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.50
    3Amine compound SLC transporters
    		Amine compound SLC transporters1.00
    		Na+/Cl- dependent neurotransmitter transporters0.63
    4Selected targets of p53
    		Selected targets of p531.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SLC6A6
        Selected targets of p53


    5/8        Reactome Pathways for SLC6A6 (see all 8)
        Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane
    Amine compound SLC transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules



    SLC6A6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process TAS8010975
    GO:0006810transport TAS8010975
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0015734taurine transport IEA--


    SLC6A6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC6A6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC6A6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC6A6

    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--
    10/14 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SLC6A6 / SC6A6 

    Transcripts
    for SLC6A6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC6A6 gene (3 alternative transcripts): 
    NM_001134367.1  NM_001134368.1  NM_003043.3  

    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 cDNA 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 

    24/123 AceView cDNA sequences (see all 123):

    AI570367 BM738408 BM981004 BX509830 AW003795 AW043964 AF346763 BM932087 
    BU146209 BG150265 AW665907 AA716511 BX642456 U09220 CA448606 BM740603 
    AI245245 BM263526 AI564469 BU684633 AI886637 AI021917 BX478649 BM931837 

    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

    Expression
    for SLC6A6 gene

    (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

    SLC6A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAATAAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC6A6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMeningesBrain
    HeartRight VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See SLC6A6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A6

    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

        SABiosciences Expression via Pathway-Focused PCR Array including SLC6A6: 
              Osmotic Stress in human mouse rat

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    In Situ
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    Orthologs
    for SLC6A6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A6 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 2(169761009-169791694)
    zebrafish
    (Danio rerio)    		 Actinopterygii 570479422   -- 74.73(n)    57047942 
    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
    for SLC6A6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A6 gene
    SLC6A112  SLC6A122  SLC6A142  SLC6A52  SLC6A82  SLC6A12  SLC6A32  SLC6A132  
    SLC6A42  SLC6A22  SLC6A72  SLC6A92  
    18/20 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

    SLC6A6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC6A6
    PGOHUM00000239149


    Genomic Variants
    for SLC6A6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1621 NCBI SNPs in SLC6A6 are shown (see all 1621)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs780037371,2
    		F,--14378689(+) CCACCC/TGGGGC 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs622318261,2
    		C,F,--14378871(+) CATCCT/CGGGGC 1 -- us2k14Minor allele frequency- C:0.08NA 126
    rs774474691,2
    		C,--14378988(+) GTTTTT/CTTGAG 1 -- us2k12Minor allele frequency- C:0.06WA 120
    rs780369281,2
    		F,--14379352(+) AGAGAG/CAGAGA 1 -- us2k11Minor allele frequency- C:0.11WA 118
    rs781592511,2
    		F,--14379608(+) ACAAGC/AGCTAC 1 -- us2k11Minor allele frequency- A:0.12WA 118
    rs784059711,2
    		--14379716(+) CTCTGT/CACCTG 1 -- us2k12Minor allele frequency- C:0.02CSA WA 120
    rs622318271,2
    		C,--14379915(+) AAGGAA/GAGGAC 1 -- us2k13Minor allele frequency- G:0.03NA WA 240
    rs67737391,2
    		A--14380668(+) CAAAAC/GGGCTC 1 -- int10--------
    rs801209271,2
    		F,--14381661(+) GCTCAG/ATAATT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs766448181,2
    		C,F,--14382198(+) AGCTTG/ATCCCC 1 -- int11Minor allele frequency- A:0.03EA 120

    HapMap Linkage Disequilibrium report for SLC6A6 (14444076 - 14530857 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC6A6: --

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    Disorders / Diseases
    for SLC6A6 gene

    (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.)
    About This Section
    SLC6A6 for disorders           About GeneDecksing

    OMIM gene information: 186854    OMIM disorders: --

    15 diseases for SLC6A6:    About MalaCards
    vitreous detachment    myofascial pain syndrome    diabetic macular edema    hemometra
    paine syndrome    retinal detachment    wilms tumor    testicular infarct
    breast angiosarcoma    diabetic neuropathy    fibromyalgia    neuropathy
    hepatoblastoma    retinitis    thyroiditis

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SLC6A6 (1 document)

    Export disorders for SLC6A6 gene to outside databases

    Publications
    for SLC6A6 gene

    (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 SLC6A6 gene, integrated from 9 sources (see all 69):
    (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. (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. (1993)
    3. Isolation of a cDNA encoding a taurine transporter in the human retinal pigment epithelium. (PubMed id 8654117)1, 2 Miyamoto Y.... Sprinkle T.J. (1996)
    4. Functional TauT protects against acute kidney injury. (PubMed id 19423693)1, 9 Han X....Chesney R.W. (2009)
    5. Human placental taurine transporter in uncomplicated and IUGR pregnancies: cellular localization, protein expression, and regulation. (PubMed id 15166008)1, 9 Roos S....Jansson T. (2004)
    6. Taurine uptake across the human intestinal brush-border membrane is via two transporters: H(+)-coupled PAT1 (SLC36A1) and Na(+)- and Cl(-)-dependent TauT (SLC6A6). (PubMed id 19074966)1, 9 Anderson C.M....Thwaites D.T. (2009)
    7. Regulation of taurine transporter gene (TauT) by WT1. (PubMed id 12681485)1, 9 Han X. and Chesney R.W. (2003)
    8. Oxidative stress and dysregulation of the taurine tra nsporter in high-glucose-exposed human Schwann cells: implications for pathogen esis of diabetic neuropathy. (PubMed id 19602579)1, 9 Askwith T....Stevens M.J. (2009)
    9. Taurine transporter in fetal T lymphocytes and platelets: differential expression and functional activity. (PubMed id 16956961)1, 9 Iruloh C.G....Glazier J.D. (2007)
    10. Activation of Ca2+/calmodulin-dependent protein kinase II is involved in hyperosmotic induction of the human taurine transporter. (PubMed id 15225620)1, 9 Satsu H....Shimizu M. (2004)

    External Searches for SLC6A6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SLC6A6 gene

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

    Other Databases showing SLC6A6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC6A6 gene

    (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 SLC6A6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC6A6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC6A6 gene:
    Search GeneIP for patents involving SLC6A6

    GeneCards and IP:
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