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

SLC17A8 Gene

protein-coding   GIFtS: 54
GCID: GC12P100750

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

(Previous names: deafness, autosomal dominant 25, solute carrier family 17...)
(Previous symbol: DFNA25)
  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Synaptic Vesicle Pathway and Amino acid transport across the plasma membrane. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC17A8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: VGLU3_HUMAN, Q8NDX2 (See protein sequence)
Recommended Name: Vesicular glutamate transporter 3  
Size: 589 amino acids; 64991 Da
Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Membrane;
Multi-pass membrane protein (Potential). Cell junction, synapse, synaptosome (By similarity)
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 

SLC17A8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SLC17A8 Protein Expression

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

ENSEMBL proteins: 
 ENSP00000316909   ENSP00000376715  
Reactome Protein details: Q8NDX2
Human Recombinant Protein Products for SLC17A8: 
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Novus Biologicals SLC17A8 Protein
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Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for SLC17A8 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

SLC17A8 for ontologies           About GeneDecksing



SLC17A8 Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC17A8
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Abcam antibodies for SLC17A8
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LSBio Antibodies in human, mouse, rat for SLC17A8 

Assay Products for SLC17A8: 
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GenScript Custom Assay Services for SLC17A8
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Cloud-Clone Corp. ELISAs for SLC17A8 
Cloud-Clone Corp. CLIAs for SLC17A8


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

3 InterPro protein domains:
 IPR020846 MFS_dom
 IPR011701 MFS
 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


SLC17A8 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: 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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005313L-glutamate transmembrane transporter activity IEA--
GO:0015293symporter activity IEA--
     
SLC17A8 for ontologies           About GeneDecksing


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

SLC17A8 for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC17A8 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC17A8

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC17A8 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC17A8 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC17A8
8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC17A8 (see all 14):
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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Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of SLC17A8

Clone
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GenScript: all cDNA clones in your preferred vector (see all 2): SLC17A8 (NM_139319)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC17A8
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC17A8
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                     Customized lentivirus expression plasmids for stable overexpression of SLC17A8 

Cell Line
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Search LifeMap BioReagents cell lines for SLC17A8
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A8


(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 SLC17A8 About   (see all 7)                                                                                              See pathways by source

SuperPathContained pathways About
1Synaptic vesicle cycle
Synaptic vesicle cycle0.50
Synaptic Vesicle Pathway0.50
2Amino acid and oligopeptide SLC transporters
Amino acid and oligopeptide SLC transporters0.63
Transport of inorganic cations/anions and amino acids/oligopeptides0.52
3Circadian entrainment
Retrograde endocannabinoid signaling0.51
Glutamatergic synapse0.39
4SLC-mediated transmembrane transport
SLC-mediated transmembrane transport0.50
Transmembrane transport of small molecules0.50
5Organic anion transporters
Organic anion transporters

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for SLC17A8
    Glutamic acid signaling


1 BioSystems Pathway for SLC17A8
    Synaptic Vesicle Pathway

5        Reactome Pathways for SLC17A8
    SLC-mediated transmembrane transport
Transmembrane transport of small molecules
Amino acid and oligopeptide SLC transporters
Transport of inorganic cations/anions and amino acids/oligopeptides
Organic anion transporters


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


SLC17A8 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC17A8

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

SLC17A8 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

SLC17A8 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about SLC17A8 / VGLU3

(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 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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8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC17A8 (see all 14):
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
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SLC17A8
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC17A8
Clone
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OriGene ORF clones in mouse, rat for SLC17A8
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GenScript: all cDNA clones in your preferred vector (see all 2): SLC17A8 (NM_139319)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC17A8
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC17A8
Sirion Biotech Customized lentivirus for stable overexpression of SLC17A8 
                     Customized lentivirus expression plasmids for stable overexpression of SLC17A8 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for SLC17A8
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC17A8
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC17A8
  QIAGEN 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:

AK128319 AJ459241 NM_139319 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™, 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

SLC17A8 expression in normal human tissues (normalized intensities)      SLC17A8 embryonic expression: see
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 
 5/3 selected tissues (see all 3) 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
         Telencephalon
         brain/midbrain/lateral wall   
 
 Eye (Sensory Organs)
         Glycinergic Amacrine Cells Inner Nuclear Layer

See SLC17A8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC17A8

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

    SABiosciences Expression via Pathway-Focused PCR Array including SLC17A8: 
          GABA & Glutamate in human mouse rat

Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC17A8
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A8

(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 SLC17A8 gene from 6/13 species (see all 13)    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 88.01(n)1
93.29(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_425451.3  XP_425451.3 
lizard
(Anolis carolinensis)
Reptilia SLC17A86
Uncharacterized protein
84(a)
1 ↔ 1
5(28645168-28670951)
zebrafish
(Danio rerio)
Actinopterygii slc17a81 solute carrier family 17 (sodium-dependent inorganic more 71.56(n)
79.62(a)
  563467  NM_001082835.1  NP_001076304.1 
fruit fly
(Drosophila melanogaster)
Insecta VGlut6
CG42886
(see all 26)
--
40(a)
36(a)
(see all 26)
1 ↔ many
possible ortholog
(see all 26)
2L(2391660-2410662)
3R(16333112-16338169)
worm
(Caenorhabditis elegans)
Secernentea eat-46
vglu-36
(see all 53)
Potential vesicular glutamate transporter T07A5.3
(see all 53)
42(a)
36(a)
(see all 53)
many ↔ many
many ↔ many
(see all 53)
III(9136916-9141822)
III(10300392-10303345)


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)
About This Section
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

SLC17A8 for paralogs           About GeneDecksing



(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

10/1416 SNPs in SLC17A8 are shown (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
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 7 diseases for SLC17A8:    About MalaCards
    dfna25 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 25    autosomal dominant nonsyndromic deafness    nonsyndromic deafness
    nonsyndromic hearing loss and deafness, autosomal dominant    sensorineural hearing loss    neuronitis

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

    SLC17A8 for disorders           About GeneDecksing

    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

    PubMed articles for SLC17A8 gene, integrated from 9 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. (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. (2008)
    3. The diverse roles of vesicular glutamate transporter 3. (PubMed id 16722234)1, 9 Seal R.P. and Edwards R.H. (2006)
    4. Genome-wide association study identifies a novel susce ptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. (PubMed id 23341777)1 Dong J....Shen H. (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....Bagyanszki M. (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. (2007)
    7. Docking and homology modeling explain inhibition of the human vesicular glutamate transporters. (PubMed id 17660252)1 Almqvist J....Hovmoller S. (2007)
    8. Distribution of vesicular glutamate transporters in rat and human retina. (PubMed id 16516863)1 Gong J....Picaud S. (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. (2004)
    10. VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate. (PubMed id 15102489)1 Fremeau R.T....Edwards R.H. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 246213 HGNC: 20151 AceView: SLC17A8 Ensembl:ENSG00000179520 euGenes: HUgn246213
    ECgene: SLC17A8 Kegg: 246213 H-InvDB: SLC17A8

    (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 SLC17A8 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 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



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