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SLC6A15 Gene

protein-coding   GIFtS: 57
GCID: GC12M085253

Solute Carrier Family 6 (Neutral Amino Acid Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter),...)
  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)
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Aliases
Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 151 2     NTT732 3
SBAT12 3 5     V7-32
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 151 2     hv7-32
Homolog Of Rat Orphan Transporter V7-31 2     Orphan Sodium- And Chloride-Dependent Neurotransmitter Transporter NTT732
Sodium/Chloride Dependent Neurotransmitter Transporter Homo Sapiens Orphan
Neurotransmitter Transporter NTT71 2
     Orphan Transporter V7-32
Sodium- And Chloride-Dependent Neurotransmitter Transporter NTT732 3     Sodium-Dependent Neutral Amino Acid Transporter B(0)AT22
Sodium-Coupled Branched-Chain Amino-Acid Transporter 12 3     Solute Carrier Family 6, Member 152
Solute Carrier Family 6 Member 152 3     B0AT23
Transporter V7-32 3     

External Ids:    HGNC: 136211   Entrez Gene: 551172   Ensembl: ENSG000000720417   OMIM: 6079715   UniProtKB: Q9H2J73   

Export aliases for SLC6A15 gene to outside databases

Previous GC identifers: GC00U990834 GC12M083757 GC12M083756 GC12M082310


(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 SLC6A15 Gene:
This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The
encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated
with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for SLC6A15 Gene:
SLC6A15 (solute carrier family 6 (neutral amino acid transporter), member 15) is a protein-coding gene. Diseases associated with SLC6A15 include bronchiolitis, and choroiditis. GO annotations related to this gene include neurotransmitter:sodium symporter activity and proline:sodium symporter activity. An important paralog of this gene is SLC6A17.

UniProtKB/Swiss-Prot: S6A15_HUMAN, Q9H2J7
Function: Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the
branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable,
pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role
as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter
transporter family, does not appear to be chloride-dependent

Gene Wiki entry for SLC6A15 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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC6A15 gene promoter:
         HFH-3   USF1   USF2   USF-1:USF-2   CREB   FOXI1   POU2F1   deltaCREB   POU2F1a   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A15 promoter sequence
   Search Chromatin IP Primers for SLC6A15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A15


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

Entrez Gene cytogenetic band: 12q21.3   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q21.31

SLC6A15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A15 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M085253:  view genomic region     (about GC identifiers)

Start:
85,253,267 bp from pter      End:
85,307,394 bp from pter
Size:
54,128 bases      Orientation:
minus 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, 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., 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: S6A15_HUMAN, Q9H2J7 (See protein sequence)
Recommended Name: Sodium-dependent neutral amino acid transporter B(0)AT2  
Size: 730 amino acids; 81836 Da
Secondary accessions: A8K592 B7Z2P7 E7ESJ5 Q9H9F5
Alternative splicing: 3 isoforms:  Q9H2J7-1   Q9H2J7-2   Q9H2J7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC6A15: NX_Q9H2J7

Explore proteomics data for SLC6A15 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys658
  • Glycosylation2 at Asn187, Asn213, Asn383, Asn394
  • Modification sites at PhosphoSitePlus

  • See SLC6A15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139807.1  NP_060527.2  NP_877499.1  

    ENSEMBL proteins: 
     ENSP00000311645   ENSP00000266682   ENSP00000450145   ENSP00000449263   ENSP00000390706  
     ENSP00000448308   ENSP00000475035  
    Reactome Protein details: Q9H2J7

    SLC6A15 Human Recombinant Protein Products:

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    (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: B0AT2
    Neutral amino acid transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002438 Na/ntran_symport_orphan

    Graphical View of Domain Structure for InterPro Entry Q9H2J7

    ProtoNet protein and cluster: Q9H2J7

    1 Blocks protein domain: IPB002438 Orphan neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: S6A15_HUMAN, Q9H2J7
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A15 subfamily


    SLC6A15 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S6A15_HUMAN, Q9H2J7
    Function: Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the
    branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable,
    pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role
    as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter
    transporter family, does not appear to be chloride-dependent
    Biophysicochemical properties: Kinetic parameters: KM=0.16 mM for L-leucine (at pH 7.5, 100 mM NaCL, -70 mV);
    KM=0.16 mM for L-valine (at pH 7.5, 100 mM NaCL, -70 mV)); KM=0.08 mM for L-isoleucine (at pH 7.5, 100 mM NaCL,
    -70 mV); KM=0.11 mM for L-methionine (at pH 7.5, 100 mM NaCL, -70 mV); KM=0.38 mM for L-proline (at pH 7.5, 100
    mM NaCL, -70 mV); pH dependence: Optimum pH is 7.5-8.5. Strongly inhibited at acidic PH;

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005298proline:sodium symporter activity IEA--
    GO:0005326neurotransmitter transporter activity NAS11112352
    GO:0005328neurotransmitter:sodium symporter activity IEA--
         
    SLC6A15 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc6a15):
     behavior/neurological  nervous system  reproductive system 

    SLC6A15 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC6A15: Slc6a15tm1Uhl Slc6a15tm1Lex

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    miRNA
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    miRTarBase miRNAs that target SLC6A15:
    hsa-mir-23a-3p (MIRT050428), hsa-mir-23b-3p (MIRT046356), hsa-mir-196b-5p (MIRT042665)

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    Selected qRT-PCR Assays for microRNAs that regulate SLC6A15 (see all 74):
    hsa-miR-520e hsa-miR-607 hsa-miR-1258 hsa-miR-3653 hsa-miR-30d hsa-miR-3161 hsa-miR-30a hsa-miR-298
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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
    S6A15_HUMAN, Q9H2J7: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    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 NAS11112352

    SLC6A15 for ontologies           About GeneDecksing


    (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 SLC6A15 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SLC6A15
        Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane



    SLC6A15 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC6A15
    Interactions:

        Search GeneGlobe Interaction Network for SLC6A15

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

    1 Interacting protein for SLC6A15 (ENSP000002666824) 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:0006811ion transport TAS--
    GO:0006836neurotransmitter transport NAS11112352
    GO:0006865amino acid transport TAS--
    GO:0015804neutral amino acid transport IDA16226721
    GO:0015820leucine transport ISS--

    SLC6A15 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC6A15 (S6A15)

    1 HMDB Compound for SLC6A15    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC6A15 gene (3 alternative transcripts): 
    NM_001146335.2  NM_018057.6  NM_182767.5  

    Unigene Cluster for SLC6A15:

    Solute carrier family 6 (neutral amino acid transporter), member 15
    Hs.44424  [show with all ESTs]
    Unigene Representative Sequence: NM_182767
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309283 ENST00000266682(uc001szv.3 uc010sul.2) ENST00000552192
    ENST00000548267 ENST00000551818 ENST00000551388 ENST00000551612 ENST00000450363(uc001szy.3)
    ENST00000547240 ENST00000549540 ENST00000551010
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    hsa-miR-520e hsa-miR-607 hsa-miR-1258 hsa-miR-3653 hsa-miR-30d hsa-miR-3161 hsa-miR-30a hsa-miR-298
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    Additional mRNA sequence: 

    AF265577.1 AF351619.1 AK001178.1 AK022853.1 AK291207.1 AK294945.1 AL050066.1 BC022253.1 
    BC070040.1 CR749673.1 

    5 DOTS entries:

    DT.307408  DT.97839618  DT.408582  DT.121215547  DT.121215584 

    Selected AceView cDNA sequences (see all 74):

    AI368909 BX109857 CF529868 BQ023730 AI803656 AI086395 N40589 CR613550 
    BC070040 BM696062 CF529695 NM_182767 AL050066 BM701139 AF265577 CA391176 
    AI275144 AL583592 CR749673 BQ011656 BG763952 N23478 BX386601 AI142587 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A15 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for SLC6A15

    (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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    SLC6A15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTTTTGAT
    SLC6A15 Expression
    About this image


    SLC6A15 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Choroid Plexus Progenitor Cells Choroid Plexus
             Medulla Oblongata
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Tube (Nervous System)
             Diencephalic Roof Plate
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
    SLC6A15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC6A15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.44424

    UniProtKB/Swiss-Prot: S6A15_HUMAN, Q9H2J7
    Tissue specificity: Almost exclusively expressed in the brain

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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 SLC6A15 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a151 , 5 solute carrier family 6 (neurotransmitter transporter), more1, 5 86.83(n)1
    91.63(a)1
      10 (53.98 cM)5
    1030981  NM_001252330.11  NP_001239259.11 
     1033678085 
    chicken
    (Gallus gallus)
    Aves SLC6A151 solute carrier family 6 (neutral amino acid transporter), more 82.49(n)
    89.16(a)
      417881  XM_004937597.1  XP_004937654.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A156
    solute carrier family 6 (neutral amino acid transp...
    88(a)
    1 ↔ 1
    5(35045700-35098179)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc6a151 solute carrier family 6 (neutral amino acid transporter), more 76.28(n)
    83.24(a)
      100380162  XM_004912910.1  XP_004912967.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc6a151 solute carrier family 6 (neutral amino acid transporter), more 69.1(n)
    76.89(a)
      565315  NM_001245072.1  NP_001232001.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG430666
    CG108046
    --
    40(a)
    38(a)
    many ↔ many
    many ↔ many
    2R(14402081-14413944)
    X(3370722-3376355)


    ENSEMBL Gene Tree for SLC6A15 (if available)
    TreeFam Gene Tree for SLC6A15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC6A15 gene
    SLC6A172  SLC6A202  SLC6A182  SLC6A162  SLC6A192  
    Selected SIMAP similar genes for SLC6A15 using alignment to 6 protein entries:     S6A15_HUMAN (see all proteins) (see all similar genes):
    DKFZp761I0921    SLC6A17    DAT1    SLC6A20    SLC6A18    SLC6A19
    SLC6A3    SLC6A9    SLC6A11    SLC6A2    SLC6A4    SLC6A12
    SLC6A16    SLC6A1    SLC6A5    SLC6A8    SLC6A7    SLC6A13

    SLC6A15 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC6A15
    PGOHUM00000234370


    (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 SLC6A15 (see all 1307)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1490850621,2
    --85252779(+) ATAGCC/TAAGAT 2 -- int10--------
    rs1851840251,2
    C--85252807(+) GTCAAG/TCAATG 2 -- int10--------
    rs1448868421,2
    --85252892(+) TGGAGG/TACATT 2 -- int10--------
    rs1387359141,2
    --85253035(+) CGGGAA/GGAAGG 2 -- int10--------
    rs1419787201,2
    --85253121(+) TGAAAA/GTAATA 2 -- int10--------
    rs1149332151,2
    C,F--85253131(+) AGTTAA/GTAATA 2 -- int11Minor allele frequency- G:0.02WA 118
    rs1882624911,2
    --85253204(+) ATGTAA/GCTATG 2 -- int10--------
    rs1927904901,2
    --85253207(+) TAACTA/GTGGGA 2 -- int10--------
    rs1844176421,2
    C--85253222(+) ATGGAC/GAAGTT 2 -- int10--------
    rs1456527681,2
    --85253251(+) TATGTA/CTATCA 2 -- int10--------

    HapMap Linkage Disequilibrium report for SLC6A15 (85253267 - 85307394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SLC6A15:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678261CNV Deletion23128226
    nsv470309CNV Loss18288195
    dgv208n27CNV Loss19166990
    nsv899377CNV Loss21882294
    nsv899376CNV Loss21882294
    dgv1471n71CNV Loss21882294
    nsv899378CNV Loss21882294
    nsv899379CNV Gain21882294
    nsv899383CNV Gain+Loss21882294

    Human Gene Mutation Database (HGMD): SLC6A15
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A15
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A15

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607971    OMIM disorders: --

    3 diseases for SLC6A15:    
    About MalaCards
    bronchiolitis    choroiditis    neuronitis


    SLC6A15 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SLC6A15 (1 document)

    Export disorders for SLC6A15 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 SLC6A15 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with SLC6A15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human NTT5 and v7-3: two orphan transporters of the Na(+)/Cl(-)-dependent neurotransmitter transporter gene family. (PubMed id 11112352)1, 2, 3 Farmer M.K.... Pangalos M.N. (Genomics 2000)
    2. Characterization of a branched-chain amino-acid transporter SBAT1 (SLC6A15) that is expressed in human brain. (PubMed id 16226721)1, 2, 9 Takanaga H.... Hediger M.A. (Biochem. Biophys. Res. Commun. 2005)
    3. The orphan transporter v7-3 (slc6a15) is a Na+-dependent neutral amino acid transporter (B0AT2). (PubMed id 16185194)1, 3 BrAPer A....BrAPer S. (Biochem. J. 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Neurotransmitter transporters in the central nervous system. (PubMed id 10471414)1, 3 Masson J....El Mestikawy S. (Pharmacol. Rev. 1999)
    7. A variant of the neuronal amino acid transporter SLC6A15 is associated with ACTH and cortisol responses and cognitive performance in unipolar depression. (PubMed id 22475622)1 Schuhmacher A....MAPssner R. (Int. J. Neuropsychopharmacol. 2013)
    8. A genome-wide association study of behavioral disinhibition. (PubMed id 23942779)1 McGue M....Iacono W.G. (Behav. Genet. 2013)
    9. SLC6A15 rs1545843 and depression: implications from brain imaging data. (PubMed id 23820837)1 Li M....Su B. (Am J Psychiatry 2013)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55117 HGNC: 13621 AceView: SLC6A15 Ensembl:ENSG00000072041 euGenes: HUgn55117
    ECgene: SLC6A15 H-InvDB: SLC6A15

    (According to HUGE)
    About This Section

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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)
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    NameDescription
    PharmGKB entry for SLC6A15 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC6A15 gene:
    Search GeneIP for patents involving SLC6A15

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



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