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

SLC17A8 Gene

protein-coding   GIFtS: 51
GCID: GC12P100750

solute carrier family 17 (sodium-dependent inorganic phosphate...

(Previous names: deafness, autosomal dominant 25 )
(Previous symbol: DFNA25)
 Explore 4 diseases affiliated with
SLC17A8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC17A8    

Aliases
for SLC17A8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 17 (Sodium-Dependent Inorganic Phosphate
Cotransporter), Member 81 2
     Deafness, Autosomal Dominant 251
VGLUT31 2 3 5     Vesicular Glutamate Transporter 32
DFNA251 2 5     VGluT33
Solute Carrier Family 17 Member 82 3     

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


Summaries
for SLC17A8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC17A8:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  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 plasmid: SLC17A8 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

Proteins
for SLC17A8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

SLC17A8 Protein expression data from MOPED and PaxDb:    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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Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn Proteins for SLC17A8

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--
GO:0019717synaptosome ----
GO:0030054cell junction IEA--
GO:0030672synaptic vesicle membrane TAS--
GO:0043005neuron projection IEA--

SLC17A8 for ontologies           About GeneDecksing



SLC17A8 Antibody Products: 
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Assay Products for SLC17A8: 
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GenScript Custom Assay Services for SLC17A8
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Uscn ELISAs and CLIAs for SLC17A8

Protein Domains /
Families
for SLC17A8 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
SLC17A8 for domains           About GeneDecksing

3 InterPro domains/families:
 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


Function
for SLC17A8 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:
     3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Slc17a8):
 behavior/neurological  hearing/vestibular/ear  nervous system 

SLC17A8 for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-outs for SLC17A8: Slc17a8tm1Edw Slc17a8tm1Selm
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC17A8 

miRNA
Products:    		Browse 3'-UTR reporter clones for miRNA target validation
Browse MicroRNA Expression Plasmids
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 plasmid: SLC17A8 3' UTR sequence
Inhib. RNA
Products:    		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC17A8 (see all 7)
OriGene shRNA RFP: SLC17A8
OriGene siRNA: SLC17A8
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC17A8
Sirion Biotech Custom design and validation of potent shRNA sequences against SLC17A8 

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for SLC17A8
Sirion Biotech Customized adenovirus for overexpression of SLC17A8 
Sirion Biotech Customized adenovirus for potent knockdown of SLC17A8

Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A8 (see all 4)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector (see all 2): SLC17A8 (NM_139319)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC17A8
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC17A8 

Cell Line
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Search LifeMap BioReagents cell lines for SLC17A8
Sirion Biotech Customized stable knockdown cell line services for SLC17A8 
Sirion Biotech Customized inducible knockdown cell line services for SLC17A8
Sirion Biotech Customized stable overexpressing cell line services for SLC17A8
Sirion Biotech Customized inducible overexpressing cell line services for SLC17A8

In Situ Assay
Products:   
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A8


Pathways & Interactions
for SLC17A8 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Amino acid and oligopeptide SLC transporters
Amino acid and oligopeptide SLC transporters1.00
Transport of inorganic cations/anions and amino acids/oligopeptides0.52
2SLC-mediated transmembrane transport
SLC-mediated transmembrane transport1.00
Transmembrane transport of small molecules0.50
3Organic anion transporters
Organic anion transporters1.00
4Glutamic acid signaling
Glutamic acid signaling1.00
5Synaptic Vesicle Pathway
Synaptic Vesicle Pathway1.00

Pathway sources
See GeneCards unified pathways
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


1         Kegg Pathway  (Kegg details for SLC17A8):
    Glutamatergic synapse


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



Drugs & Compounds
for SLC17A8 gene

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

SLC17A8 for compounds           About GeneDecksing

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

Browse Tocris compounds for SLC17A8

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

Transcripts
for SLC17A8 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for 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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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 plasmid: SLC17A8 3' UTR sequence
Inhib. RNA
Products:     		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC17A8 (see all 7)
OriGene shRNA RFP: SLC17A8
OriGene siRNA: SLC17A8
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC17A8
Sirion Biotech Custom design and validation of potent shRNA sequences against SLC17A8 
Clone
Products:     		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC17A8 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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 
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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 cDNA 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


Expression
for SLC17A8 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

SLC17A8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
EyeInner Nuclear LayerGlycinergic Amacrine CellsAmacrine, Retina
BrainMedulla OblongataBrain
Neural TubeMesencephalic Ventricular ZoneNeural Tube
Neural TubeMetencephalonNeural Tube
Neural TubeTelencephalonNeural Tube
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

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
for SLC17A8 gene

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

Orthologs for SLC17A8 gene from 7/24 species (see all 24)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
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
 --
 85(a)
 1 ↔ 1
 5(28646630-28670951)
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 CG42886
VGlut6
 Vesicular glutamate transporter
 37(a)
37(a)
 possible ortholog
1 ↔ many
 3R(16333112-16338169)
2L(2391660-2410662)
worm
(Caenorhabditis elegans)		 Secernentea eat-46
vglu-36
(see all 4)		 Potential vesicular glutamate transporter T07A5.3
(see all 4)		 41(a)
35(a)
(see all 4)		 many ↔ many
many ↔ many
(see all 4)		 III(9136839-9141745)
III(10300298-10303251)
thale cress
(Arabidopsis thaliana)		 eudicotyledons PHT4;66
 putative anion transporter 5
 29(a)
 1 → many
 5(17874885-17877564)
rice
(Oryza sativa)		 Liliopsida --
--
 transporter, major facilitator family, putative, e...
transporter, major facilitator family, putative, e...
 28(a)
28(a)
 many ↔ many
many ↔ many
 12(4043466-4046391)
11(4409142-4411772)


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

Paralogs
for SLC17A8 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SLC17A8 gene
SLC17A72  SLC17A32  SLC17A62  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



Genomic Variants
for SLC17A8 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/1167 NCBI SNPs in SLC17A8 are shown (see all 1167)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 12 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs745425031,2
--97810493(+) CAGTCA/GCATGC 2 -- us2k10--------
rs755587981,2
C--97810570(+) ACAGAG/AGCGTC 2 -- us2k11Minor allele frequency- A:0.50WA 2
rs123727481,2
C,F,H--97810576(+) GCGTCA/TTCCTG 2 -- us2k19Minor allele frequency- T:0.09NS EA NA 670
rs751744031,2
C--97810658(+) CCCTGC/ACAGGC 2 -- us2k12Minor allele frequency- A:0.17WA 120
rs772855281,2
C--97810676(+) GGGCAG/AAGGAC 2 -- us2k11Minor allele frequency- A:0.01EA 120
rs1176097101,2
C,F--97810842(+) NNNNGG/ACAATA 2 -- us2k11Minor allele frequency- A:0.02NA 120
rs122974821,2
C,F--97811259(+) GGGGAA/GAAAAC 2 -- us2k1 trp31Minor allele frequency- G:0.13WA 118
rs122976541,2
C,A--97811469(+) GGGCTA/GCTCAA 2 -- us2k14Minor allele frequency- G:0.03NA WA 624
rs576913711,2
C--97811731(+) AAAGTC/ATCACT 2 -- us2k12Minor allele frequency- A:0.00WA 504
rs607384481,2
C--97811975(+) CTGAAT/CTCCCA 2 -- ut511Minor allele frequency- C:0.00--502

HapMap Linkage Disequilibrium report for SLC17A8 (100750857 - 100815837 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for SLC17A8: --
Human Gene Mutation Database (HGMD): SLC17A8

SABiosciences Cancer Mutation PCR Assays
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Disorders / Diseases
for SLC17A8 gene

(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
SLC17A8 for disorders           About GeneDecksing

OMIM gene information: 607557   
OMIM disorders: 605583  
UniProtKB/Swiss-Prot: VGLU3_HUMAN, Q8NDX2
  • Defects in SLC17A8 are the cause of deafness autosomal dominant type 25 (DFNA25) [MIM:605583]. DFNA25 is a
    • form of sensorineural hearing loss. The expression of DFNA25 deafness 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

    4 diseases for SLC17A8:    About MalaCards
    deafness, autosomal dominant 25    autosomal dominant nonsyndromic deafness    nonsyndromic deafness    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SLC17A8:
    Sensorineural hearing loss
    Human Genome Epidemiology (HuGE) Navigator: SLC17A8 (1 document)

    Export disorders for SLC17A8 gene to outside databases

    Publications
    for SLC17A8 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC17A8 gene, integrated from 9 sources (see all 17):
    (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. 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)
    5. Docking and homology modeling explain inhibition of the human vesicular glutamate transporters. (PubMed id 17660252)1 Almqvist J....Hovmoller S. (2007)
    6. Distribution of vesicular glutamate transporters in rat and human retina. (PubMed id 16516863)1 Gong J....Picaud S. (2006)
    7. 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)
    8. VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate. (PubMed id 15102489)1 Fremeau R.T....Edwards R.H. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for SLC17A8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SLC17A8 gene

    (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

    Other Databases showing SLC17A8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC17A8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC17A8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC17A8 gene

    (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:
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