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SLC17A8 Gene

protein-coding   GIFtS: 56
GCID: GC12P100750

Solute Carrier Family 17 (Vesicular Glutamate Transporter),...

(Previous names: deafness, autosomal dominant 25, solute carrier family 17...)
(Previous symbol: DFNA25)
  See SLC17A8-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 17 (Vesicular Glutamate Transporter), Member
81 2
     Vesicular Glutamate Transporter 31 2
DFNA251 2 5     Solute Carrier Family 17 Member 82 3
VGLUT32 3 5     Deafness, Autosomal Dominant 251
Solute Carrier Family 17 (Sodium-Dependent Inorganic Phosphate
Cotransporter), Member 81 2
     VGluT33

External Ids:    HGNC: 201511   Entrez Gene: 2462132   Ensembl: ENSG000001795207   OMIM: 6075575   UniProtKB: Q8NDX23   

Export aliases for SLC17A8 gene to outside databases

Previous GC identifers: GC12P100683 GC12P099253 GC12P097811


(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 SLC17A8 Gene:
This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate
into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of
autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript
variants.(provided by RefSeq, May 2010)

GeneCards Summary for SLC17A8 Gene:
SLC17A8 (solute carrier family 17 (vesicular glutamate transporter), member 8) is a protein-coding gene. Diseases associated with SLC17A8 include dfna25 nonsyndromic hearing loss and deafness, and deafness, autosomal dominant 25. GO annotations related to this gene include L-glutamate transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC17A7.

UniProtKB/Swiss-Prot: VGLU3_HUMAN, Q8NDX2
Function: Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory
neural cells. May also mediate the transport of inorganic phosphate

Gene Wiki entry for SLC17A8 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_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC17A8 gene promoter:
         E2F-3a   E2F-4   E2F-5   AML1a   E2F-2   YY1   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC17A8 promoter sequence
   Search Chromatin IP Primers for SLC17A8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC17A8


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

SLC17A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC17A8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P100750:  view genomic region     (about GC identifiers)

Start:
100,750,857 bp from pter      End:
100,815,837 bp from pter
Size:
64,981 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: VGLU3_HUMAN, Q8NDX2 (See protein sequence)
Recommended Name: Vesicular glutamate transporter 3  
Size: 589 amino acids; 64991 Da
Secondary accessions: B3KXZ6 B7ZKV4 Q17RQ8
Alternative splicing: 2 isoforms:  Q8NDX2-1   Q8NDX2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC17A8: NX_Q8NDX2

Explore proteomics data for SLC17A8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn106

  • See SLC17A8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138760.1  NP_647480.1  

    ENSEMBL proteins: 
     ENSP00000316909   ENSP00000376715  
    Reactome Protein details: Q8NDX2

    SLC17A8 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: Vesicular glutamate transporter 3
    Vesicular glutamate transporters (VGLUTs)

    3 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q8NDX2

    ProtoNet protein and cluster: Q8NDX2

    UniProtKB/Swiss-Prot: VGLU3_HUMAN, Q8NDX2
    Similarity: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily


    Find genes that share domains with SLC17A8           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: VGLU3_HUMAN, Q8NDX2
    Function: Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory
    neural cells. May also mediate the transport of inorganic phosphate

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IEA--
    GO:0015293symporter activity IEA--
         
    Find genes that share ontologies with SLC17A8           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc17a8):
     behavior/neurological  hearing/vestibular/ear  integument  nervous system 

    Find genes that share phenotypes with SLC17A8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC17A8: Slc17a8tm1Edw Slc17a8tm1Selm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC17A8
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    miRNA
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    miRTarBase miRNAs that target SLC17A8:
    hsa-mir-100-5p (MIRT048423)

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    hsa-miR-3163 hsa-miR-3671 hsa-miR-3128 hsa-miR-31 hsa-miR-4311 hsa-miR-607 hsa-miR-922 hsa-miR-4328
    SwitchGear 3'UTR luciferase reporter plasmidSLC17A8 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A8


    (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
    VGLU3_HUMAN, Q8NDX2: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Membrane;
    Multi-pass membrane protein (Potential). Cell junction, synapse, synaptosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0030054cell junction IEA--
    GO:0030672synaptic vesicle membrane TAS--
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with SLC17A8           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 SLC17A8 About    
    See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    2Transport 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
    Organic anion transporters0.00
    3Circadian entrainment
    Retrograde endocannabinoid signaling0.51
    Glutamatergic synapse0.39
    4Nicotine addiction
    Nicotine addiction
    5Glutamic acid signaling
    Glutamic acid signaling


    Find genes that share SuperPaths with SLC17A8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC17A8
        Synaptic Vesicle Pathway

    1 Reactome Pathway for SLC17A8
        Organic anion transporters


    4 Kegg Pathways  (Kegg details for SLC17A8):
        Synaptic vesicle cycle
    Retrograde endocannabinoid signaling
    Glutamatergic synapse
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC17A8: 
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC17A8

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

    1 Interacting protein for SLC17A8 (ENSP000003169094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSKENSP000002716514STRING: ENSP00000271651
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IEA--
    GO:0006836neurotransmitter transport IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0015813L-glutamate transport ----

    Find genes that share ontologies with SLC17A8           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC17A8 (VGLU3)

    1 HMDB Compound for SLC17A8    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 Novoseek inferred chemical compound relationship for SLC17A8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 58.4 17 18674745 (4), 12388773 (1), 16722234 (1), 19467322 (1) (see all 8)



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    (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 SLC17A8 gene (2 alternative transcripts): 
    NM_001145288.1  NM_139319.2  

    Unigene Cluster for SLC17A8:

    Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
    Hs.116871  [show with all ESTs]
    Unigene Representative Sequence: NM_139319
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323346(uc010svi.2 uc009ztx.3) ENST00000392989 ENST00000547922
    ENST00000552697
    miRNA
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    hsa-miR-3163 hsa-miR-3671 hsa-miR-3128 hsa-miR-31 hsa-miR-4311 hsa-miR-607 hsa-miR-922 hsa-miR-4328
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      QuantiFast Probe-based Assays in human, mouse, rat SLC17A8

    Additional mRNA sequence: 

    AJ459241.1 AK128319.1 BC117229.1 BC143396.1 

    1 DOTS entry:

    DT.100008723 

    4 AceView cDNA sequences:

    NM_139319 AK128319 AJ459241 AA406560 

    GeneLoc Exon Structure


    (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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    SLC17A8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC17A8 Expression
    About this image


    SLC17A8 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 15 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Mesencephalic Ventricular Zone
             brain/midbrain/lateral wall   
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
    SLC17A8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC17A8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.116871

    UniProtKB/Swiss-Prot: VGLU3_HUMAN, Q8NDX2
    Tissue specificity: Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC17A8: 
              GABA & Glutamate 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 SLC17A8 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc17a81 , 5 solute carrier family 17 (sodium-dependent inorganic more1, 5 87.81(n)1
    92.69(a)1
      10 (44.99 cM)5
    2162271  NM_182959.31  NP_892004.11 
     895740205 
    chicken
    (Gallus gallus)
    Aves SLC17A81 solute carrier family 17 (sodium-dependent inorganic more 78.31(n)
    85.86(a)
      427877  XM_425451.4  XP_425451.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC17A86
    solute carrier family 17 (vesicular glutamate tran...
    84(a)
    1 ↔ 1
    5(28645168-28670951)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc17a81 solute carrier family 17 (sodium-dependent inorganic more 75.09(n)
    81.57(a)
      100489470  XM_002936846.2  XP_002936892.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc17a81 solute carrier family 17 (sodium-dependent inorganic more 71.79(n)
    79.62(a)
      563467  NM_001082835.1  NP_001076304.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VGlut6
    Vesicular glutamate transporter
    42(a)
    1 → many
    2L(2391660-2410662)
    worm
    (Caenorhabditis elegans)
    Secernentea eat-46
    vglu-36
    (see all 3)
    Protein VGLU-3 (vglu-3) mRNA, complete cds
    (see all 3)
    45(a)
    38(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    III(9136916-9141822) WBGene00001135
    III(10300392-10303345) WBGene00011556


    ENSEMBL Gene Tree for SLC17A8 (if available)
    TreeFam Gene Tree for SLC17A8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC17A8 gene
    SLC17A72  SLC17A62  SLC17A32  SLC17A42  SLC17A12  SLC17A52  SLC17A92  SLC17A22  
    6 SIMAP similar genes for SLC17A8 using alignment to 1 protein entry:     VGLU3_HUMAN:
    SLC17A7    SLC17A6    SLC17A5    SLC17A4    SLC17A1    SLC17A2

    Find genes that share paralogs with SLC17A8           About GenesLikeMe



    (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 SLC17A8 (see all 1416)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0541304
    Deafness, autosomal dominant, 25 (DFNA25)4--see VAR_0541302 A V mis40--------
    rs112675471,2
    C--97834593(+) AGAGGTCAGTGA 
     AAAAT
    /-
    TCTAC
    2 -- cds11Minor allele frequency- -:0.50CSA 2
    rs747970961,2
    C--97834596(+) AGGTC-/AGTGA 
     AAAATTC
    TACCA
    2 -- cds10--------
    rs357891311,2
    C--97838668(+) GGTCC-/AACAGG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1442391771,2
    C--97844631(+) ATTTG-/TATTAT/T
    ATTATTATTAT
    TATTA
    4 -- cds10--------
    rs340472501,2
    C--97849235(+) TTTTT-/TGAGAT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs113047051,2
    C--97850162(+) AAGAA-/TTTTTT 2 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs2014457151,2
    --97858115(+) CTGAC-/CAACAACA 2 -- cds10--------
    rs30571981,2
    C--97858116(-) TGCCA-/TGTT  
            
    TGTTG
    2 -- int10--------
    rs40159051,2
    C--97863994(-) ACATA-/ATA   
      C
    /CATA
    ACGTT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for SLC17A8 (100750857 - 100815837 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC17A8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv988196CNV Deletion20482838
    nsv851CNV Loss18451855

    Human Gene Mutation Database (HGMD): SLC17A8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC17A8
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC17A8

    (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.)
    About This Section

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    OMIM gene information: 607557   
    OMIM disorders: 605583  
    UniProtKB/Swiss-Prot: VGLU3_HUMAN, Q8NDX2
  • Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of
    onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile
    deafness, a progressive bilateral loss of hearing that occurs in the aged. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for SLC17A8:    
    About MalaCards
    dfna25 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 25    central retinal artery occlusion    deafness, autosomal dominant 4b
    retinal artery occlusion

    3 diseases from the University of Copenhagen DISEASES database for SLC17A8:
    Sensorineural hearing loss     Nonsyndromic deafness     Central retinal artery occlusion

    Find genes that share disorders with SLC17A8           About GenesLikeMe

    Genetic Association Database (GAD): SLC17A8
    Human Genome Epidemiology (HuGE) Navigator: SLC17A8 (1 document)

    Export disorders for SLC17A8 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

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    PubMed articles for SLC17A8 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with SLC17A8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional characterization of human vesicular glutamate transporter 3. (PubMed id 12151341)1, 2, 3, 9 Takamori S.... Jahn R. (EMBO Rep. 2002)
    2. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (PubMed id 18674745)1, 2, 9 Ruel J.... Puel J.-L. (Am. J. Hum. Genet. 2008)
    3. The diverse roles of vesicular glutamate transporter 3. (PubMed id 16722234)1, 9 Seal R.P. and Edwards R.H. (Handb Exp Pharmacol 2006)
    4. Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. (PubMed id 23341777)1 Dong J....Shen H. (PLoS Genet. 2013)
    5. Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine. (PubMed id 18498073)1 Linke N....BagyA!nszki M. (Histol. Histopathol. 2008)
    6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    7. Docking and homology modeling explain inhibition of the human vesicular glutamate transporters. (PubMed id 17660252)1 Almqvist J....HovmAPller S. (Protein Sci. 2007)
    8. Distribution of vesicular glutamate transporters in rat and human retina. (PubMed id 16516863)1 Gong J....Picaud S. (Brain Res. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate. (PubMed id 15102489)1 Fremeau R.T....Edwards R.H. (Trends Neurosci. 2004)

    (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)
    About This Section

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    Entrez Gene: 246213 HGNC: 20151 AceView: SLC17A8 Ensembl:ENSG00000179520 euGenes: HUgn246213
    ECgene: SLC17A8 Kegg: 246213 H-InvDB: SLC17A8

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC17A8 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for SLC17A8 gene:
    Search GeneIP for patents involving SLC17A8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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