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Aliases for SLC17A8 Gene

Aliases for SLC17A8 Gene

  • Solute Carrier Family 17 Member 8 2 3 4 5
  • Solute Carrier Family 17 (Sodium-Dependent Inorganic Phosphate Cotransporter), Member 8 2 3
  • Solute Carrier Family 17 (Vesicular Glutamate Transporter), Member 8 2 3
  • Vesicular Glutamate Transporter 3 2 3
  • VGLUT3 3 4
  • Deafness, Autosomal Dominant 25 2
  • DFNA25 3

External Ids for SLC17A8 Gene

Previous HGNC Symbols for SLC17A8 Gene

  • DFNA25

Previous GeneCards Identifiers for SLC17A8 Gene

  • GC12P100683
  • GC12P099253
  • GC12P097811
  • GC12P100750

Summaries for SLC17A8 Gene

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 Member 8) is a Protein Coding gene. Diseases associated with SLC17A8 include Deafness, Autosomal Dominant 25 and Dfna25 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Synaptic vesicle cycle. GO annotations related to this gene include symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC17A6.

UniProtKB/Swiss-Prot for SLC17A8 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC17A8 Gene

Genomics for SLC17A8 Gene

Regulatory Elements for SLC17A8 Gene

Enhancers for SLC17A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC17A8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC17A8 Gene

Chromosome:
12
Start:
100,357,079 bp from pter
End:
100,422,059 bp from pter
Size:
64,981 bases
Orientation:
Plus strand

Genomic View for SLC17A8 Gene

Genes around SLC17A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A8 Gene

Proteins for SLC17A8 Gene

  • Protein details for SLC17A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDX2-VGLU3_HUMAN
    Recommended name:
    Vesicular glutamate transporter 3
    Protein Accession:
    Q8NDX2
    Secondary Accessions:
    • B3KXZ6
    • B7ZKV4
    • Q17RQ8

    Protein attributes for SLC17A8 Gene

    Size:
    589 amino acids
    Molecular mass:
    64991 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC17A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A8 Gene

Post-translational modifications for SLC17A8 Gene

Other Protein References for SLC17A8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC17A8 Gene

Domains & Families for SLC17A8 Gene

Gene Families for SLC17A8 Gene

Protein Domains for SLC17A8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NDX2

UniProtKB/Swiss-Prot:

VGLU3_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily.
genes like me logo Genes that share domains with SLC17A8: view

Function for SLC17A8 Gene

Molecular function for SLC17A8 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SLC17A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC17A8: view
genes like me logo Genes that share phenotypes with SLC17A8: view

Human Phenotype Ontology for SLC17A8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC17A8 Gene

MGI Knock Outs for SLC17A8:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC17A8

CRISPR Products

miRNA for SLC17A8 Gene

miRTarBase miRNAs that target SLC17A8

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC17A8 Gene

Localization for SLC17A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A8 Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Membrane; Multi-pass membrane protein. Cell junction, synapse, synaptosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC17A8 Gene COMPARTMENTS Subcellular localization image for SLC17A8 gene
Compartment Confidence
plasma membrane 4
endosome 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC17A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005771 multivesicular body IEA --
GO:0016021 integral component of membrane IBA --
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SLC17A8: view

Pathways & Interactions for SLC17A8 Gene

genes like me logo Genes that share pathways with SLC17A8: view

Interacting Proteins for SLC17A8 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000316909%0d%0a9606.ENSP00000293813%0d%0a
Selected Interacting proteins: ENSP00000316909 Q8NDX2-VGLU3_HUMAN for SLC17A8 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC17A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IEA --
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with SLC17A8: view

No data available for SIGNOR curated interactions for SLC17A8 Gene

Drugs & Compounds for SLC17A8 Gene

(2) Additional Compounds for SLC17A8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC17A8: view

Transcripts for SLC17A8 Gene

mRNA/cDNA for SLC17A8 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC17A8 Gene

Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A8 Gene

No ASD Table

Relevant External Links for SLC17A8 Gene

GeneLoc Exon Structure for
SLC17A8
ECgene alternative splicing isoforms for
SLC17A8

Expression for SLC17A8 Gene

mRNA expression in normal human tissues for SLC17A8 Gene

mRNA differential expression in normal tissues according to GTEx for SLC17A8 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x13.9), Brain - Caudate (basal ganglia) (x5.4), Brain - Amygdala (x4.6), Brain - Putamen (basal ganglia) (x4.1), and Brain - Hippocampus (x4.0).

Protein differential expression in normal tissues from HIPED for SLC17A8 Gene

This gene is overexpressed in Heart (37.1) and CD4 Tcells (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC17A8 Gene



Protein tissue co-expression partners for SLC17A8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC17A8 Gene:

SLC17A8

SOURCE GeneReport for Unigene cluster for SLC17A8 Gene:

Hs.116871

mRNA Expression by UniProt/SwissProt for SLC17A8 Gene:

Q8NDX2-VGLU3_HUMAN
Tissue specificity: Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus.
genes like me logo Genes that share expression patterns with SLC17A8: view

Primer Products

Orthologs for SLC17A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC17A8 34
  • 91.5 (n)
  • 94.05 (a)
SLC17A8 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A8 34
  • 91.42 (n)
  • 93.96 (a)
SLC17A8 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc17a8 34
  • 87.81 (n)
  • 92.69 (a)
Slc17a8 16
Slc17a8 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC17A8 34
  • 99.04 (n)
  • 99.32 (a)
SLC17A8 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a8 34
  • 88.38 (n)
  • 92.35 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC17A8 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC17A8 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC17A8 34
  • 78.31 (n)
  • 85.86 (a)
SLC17A8 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC17A8 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc17a8 34
  • 75.09 (n)
  • 81.57 (a)
zebrafish
(Danio rerio)
Actinopterygii slc17a8 34
  • 71.79 (n)
  • 79.62 (a)
slc17a8 35
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta VGlut 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eat-4 35
  • 45 (a)
ManyToMany
vglu-2 35
  • 35 (a)
ManyToMany
vglu-3 35
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
Species where no ortholog for SLC17A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC17A8 Gene

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

Paralogs for SLC17A8 Gene

Paralogs for SLC17A8 Gene

(6) SIMAP similar genes for SLC17A8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC17A8: view

Variants for SLC17A8 Gene

Sequence variations from dbSNP and Humsavar for SLC17A8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs45610843 - 100,357,414(+) TGATA(C/T)CTTCA reference, missense
rs121918339 Deafness, autosomal dominant, 25 (DFNA25) 100,396,373(+) GTGGG(C/T)ACCAC reference, missense
rs11568530 - 100,396,399(+) GACTG(A/G)CCACA reference, missense
rs11568543 - 100,401,837(+) CATTG(A/C/G)ATGGT reference, missense
rs7301230 -- 100,362,379(+) AGttt(C/T)attta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC17A8 Gene

Variant ID Type Subtype PubMed ID
esv3630554 CNV loss 21293372
esv988196 CNV deletion 20482838
nsv559964 CNV gain 21841781
nsv851 CNV deletion 18451855

Variation tolerance for SLC17A8 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC17A8 Gene

Human Gene Mutation Database (HGMD)
SLC17A8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A8 Gene

Disorders for SLC17A8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC17A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • deafness, autosomal dominant, 25
dfna25 nonsyndromic hearing loss and deafness
  • dfna 25
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
central retinal artery occlusion
cocaine abuse
  • cocaine-related disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VGLU3_HUMAN
  • 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. {ECO:0000269 PubMed:18674745}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC17A8

Genetic Association Database (GAD)
SLC17A8
Human Genome Epidemiology (HuGE) Navigator
SLC17A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC17A8
genes like me logo Genes that share disorders with SLC17A8: view

No data available for Genatlas for SLC17A8 Gene

Publications for SLC17A8 Gene

  1. Molecular cloning and functional characterization of human vesicular glutamate transporter 3. (PMID: 12151341) Takamori S. … Jahn R. (EMBO Rep. 2002) 2 3 4 22 65
  2. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (PMID: 18674745) Ruel J. … Puel J.-L. (Am. J. Hum. Genet. 2008) 3 4 22 65
  3. The diverse roles of vesicular glutamate transporter 3. (PMID: 16722234) Seal R.P. … Edwards R.H. (Handb Exp Pharmacol 2006) 3 22 65
  4. Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. (PMID: 26797701) Ryu N. … Kim U.K. (BMC Med. Genet. 2016) 3 65
  5. The absence of VGLUT3 predisposes to cocaine abuse by increasing dopamine and glutamate signaling in the nucleus accumbens. (PMID: 26239290) Sakae D.Y. … El Mestikawy S. (Mol. Psychiatry 2015) 3 65

Products for SLC17A8 Gene

Sources for SLC17A8 Gene

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