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Aliases for SLC17A8 Gene

Aliases for SLC17A8 Gene

  • Solute Carrier Family 17 Member 8 2 3 4
  • Solute Carrier Family 17 (Vesicular Glutamate Transporter), Member 8 2 3 5
  • Solute Carrier Family 17 (Sodium-Dependent Inorganic Phosphate Cotransporter), Member 8 2 3
  • VGLUT3 3 4
  • Vesicular Glutamate Transporter 3 2
  • 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 Circadian entrainment. GO annotations related to this gene include symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC17A2.

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

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

Proteomics data for SLC17A8 Gene at MOPED

Post-translational modifications for SLC17A8 Gene

Other Protein References for SLC17A8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC17A8

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0016021 integral component of membrane IEA,IBA --
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
GO:0043005 neuron projection 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 for SLC17A8 Gene via STRING

Symbol External ID(s) Details
--

Gene Ontology (GO) - Biological Process for SLC17A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0015813 L-glutamate transport IEA --
GO:0089711 L-glutamate transmembrane transport IEA --
GO:0090102 cochlea 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:

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



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

Protein tissue co-expression partners for SLC17A8 Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 91.5 (n)
  • 94.05 (a)
SLC17A8 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A8 35
  • 91.42 (n)
  • 93.96 (a)
SLC17A8 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc17a8 35
  • 87.81 (n)
  • 92.69 (a)
Slc17a8 16
Slc17a8 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC17A8 35
  • 99.04 (n)
  • 99.32 (a)
SLC17A8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a8 35
  • 88.38 (n)
  • 92.35 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC17A8 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC17A8 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC17A8 35
  • 78.31 (n)
  • 85.86 (a)
SLC17A8 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC17A8 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc17a8 35
  • 75.09 (n)
  • 81.57 (a)
zebrafish
(Danio rerio)
Actinopterygii slc17a8 35
  • 71.79 (n)
  • 79.62 (a)
slc17a8 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta VGlut 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eat-4 36
  • 45 (a)
ManyToMany
vglu-2 36
  • 35 (a)
ManyToMany
vglu-3 36
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for SLC17A8:
  • 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
VAR_054130 Deafness, autosomal dominant, 25 (DFNA25)
rs11568530 - 100,396,399(+) GACTG(A/G)CCACA reference, missense
rs11568543 - 100,401,837(+) CATTG(A/C/G)ATGGT reference, missense
rs943402 -- 100,399,201(-) TATGC(A/G)AAGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv851 CNV Loss 18451855
esv988196 CNV Deletion 20482838

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

HapMap Linkage Disequilibrium report
SLC17A8
Human Gene Mutation Database (HGMD)
SLC17A8

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

Disorders for SLC17A8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
dfna25 nonsyndromic hearing loss and deafness
  • deafness, autosomal dominant 25
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
central retinal artery occlusion
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
- 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 23 67
  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 23
  3. The diverse roles of vesicular glutamate transporter 3. (PMID: 16722234) Seal R.P. … Edwards R.H. (Handb Exp Pharmacol 2006) 3 23
  4. Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. (PMID: 23341777) Dong J. … Shen H. (PLoS Genet. 2013) 3
  5. Locally collateralizing glutamate neurons in the dorsal raphe nucleus responsive to substance P contain vesicular glutamate transporter 3 (VGLUT3). (PMID: 19467322) Commons K.G. (J. Chem. Neuroanat. 2009) 23

Products for SLC17A8 Gene

Sources for SLC17A8 Gene

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