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

SLC6A6 Gene

protein-coding   GIFtS: 61
GCID: GC03P014444

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

(Previous names: solute carrier family 6 (neurotransmitter transporter, taurine),...)
  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 breast angiosarcoma, and testicular infarct, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  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

(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: SC6A6_HUMAN, P31641 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent taurine transporter  
Size: 620 amino acids; 69830 Da
Subcellular location: Cell 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

Explore proteomics data for SLC6A6 at MOPED 

Post-translational modifications:

  • UniProtKB: Down-regulated upon Ser-322 phosphorylation (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31641

  • SLC6A6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A6 Protein Expression
    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 for SLC6A6: 
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    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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    (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: 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


    SLC6A6 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: 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 (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


    Phenotypes:
         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

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

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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 SLC6A6 About                                                                                                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
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    4Selected targets of p53
    Selected targets of p53

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/7 biological process terms (GO ID links to tree view) (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--

    SLC6A6 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

    SLC6A6 for compounds           About GeneDecksing

    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--

    10/14 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)

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

    (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 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 

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

    AF346763 AI245245 BM263526 CA448606 BM981004 BU146209 AW003795 BG150265 
    BX509830 AI570367 AI564469 BU684633 AA716511 BM738408 AW665907 BM932087 
    BX642456 U09220 BM740603 AI886637 AW043964 BM467131 AI289973 AA888412 

    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™, 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)      SLC6A6 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             neutrophils   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland ; glandular cells   
             parotid gland   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   
             alveolar macrophages   

    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: 
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SLC6A6 gene from 4/13 species (see all 13)    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)
    zebrafish
    (Danio rerio)
    Actinopterygii 570479422   -- 74.73(n)    57047942 


    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)
    About This Section
    Paralogs for SLC6A6 gene
    SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A32  SLC6A12  SLC6A42  
    SLC6A132  SLC6A72  SLC6A22  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


    (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

    10/1892 SNPs in SLC6A6 are shown (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
    ----------
    VAR_0117694
    ----see VAR_0117692 W C mis40--------
    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

    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

    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 186854    OMIM disorders: --

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

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

    SLC6A6 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC6A6 gene, integrated from 9 sources (see all 77):
    (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. 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)
    4. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (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. (1996)
    6. Functional TauT protects against acute kidney injury. (PubMed id 19423693)1, 9 Han X....Chesney R.W. (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. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    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: 6533 HGNC: 11052 AceView: SLC6A6 Ensembl:ENSG00000131389 euGenes: HUgn6533
    ECgene: SLC6A6 H-InvDB: SLC6A6

    (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 SLC6A6 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 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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    About This Section

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