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] See more...

Aliases for SLC17A8 Gene

Aliases for SLC17A8 Gene

  • Solute Carrier Family 17 Member 8 2 3 4 5
  • Vesicular Glutamate Transporter 3 2 3 4
  • Solute Carrier Family 17 (Sodium-Dependent Inorganic Phosphate Cotransporter), Member 8 2 3
  • Solute Carrier Family 17 (Vesicular Glutamate Transporter), Member 8 2 3
  • VGLUT3 3 4
  • Deafness, Autosomal Dominant 25 2
  • DFNA25 3
  • VGluT3 4

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 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Circadian entrainment and Synaptic vesicle cycle. Gene Ontology (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 Summary 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

Additional gene information for SLC17A8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC17A8 Gene

Genomics for SLC17A8 Gene

GeneHancer (GH) Regulatory Elements for SLC17A8 Gene

Promoters and enhancers for SLC17A8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J100356 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 500.7 0.0 -22 0.3 POLR2A SMARCA4 SLC17A8 piR-31063
GH12J100553 Enhancer 1 Ensembl ENCODE 11 +197.8 197846 3 FOXK2 ZNF217 CTCF NCOR1 ZNF639 RFX1 REST RAD21 TRIM22 TEAD1 SLC17A8 NR1H4 piR-39099-068 lnc-DEPDC4-3
GH12J100563 Enhancer 1 Ensembl ENCODE 10.3 +209.1 209127 6 POLR2G RELA BCL11A CTCF ZNF316 MAFF MAFK ARNT RBM22 ZFHX2 SLC17A8 NR1H4 GAS2L3 piR-33303-053
GH12J100279 Enhancer 0.7 Ensembl ENCODE 10.7 -77.3 -77273 1.6 PBX2 GATA3 MEIS2 ZBTB33 HNF4A HLF TEAD4 HNF4G HMBOX1 CBFA2T3 SLC17A8 ACTR6 SCYL2 piR-48759-064 DEPDC4
GH12J100527 Enhancer 0.7 Ensembl ENCODE 10.9 +171.5 171538 2.9 TCF12 FOSL2 NR3C1 FOXA1 ATF3 REST SP1 NR1H4 SLC17A8 ENSG00000271177 lnc-DEPDC4-4 lnc-DEPDC4-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC17A8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC17A8

Top Transcription factor binding sites by QIAGEN in the SLC17A8 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • YY1

Genomic Locations for SLC17A8 Gene

Genomic Locations for SLC17A8 Gene
chr12:100,357,074-100,422,059
(GRCh38/hg38)
Size:
64,986 bases
Orientation:
Plus strand
chr12:100,750,857-100,815,837
(GRCh37/hg19)
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

  • Glycosylation at Asn106

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC17A8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A8 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 17 member 8 (VGLU3_HUMAN)

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.

Phenotypes From GWAS Catalog for SLC17A8 Gene

Gene Ontology (GO) - Molecular Function for SLC17A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IBA 21873635
GO:0005326 neurotransmitter transporter activity IBA 21873635
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A8 gene
Compartment Confidence
plasma membrane 4
endosome 3
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 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:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC17A8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC17A8 Gene

Pathways & Interactions for SLC17A8 Gene

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

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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • 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 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for SLC17A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SLC17A8 Gene

  • Nervous system(4.6)
  • Lung(4.1)
  • Heart(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SLC17A8: view

Orthologs for SLC17A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC17A8 31 30
  • 99.04 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC17A8 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC17A8 31 30
  • 91.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A8 31 30
  • 91.42 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC17A8 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a8 30
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Slc17a8 17 31 30
  • 87.81 (n)
chicken
(Gallus gallus)
Aves SLC17A8 31 30
  • 78.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC17A8 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc17a8 30
  • 75.09 (n)
zebrafish
(Danio rerio)
Actinopterygii slc17a8 31 30
  • 71.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta VGlut 31
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eat-4 31
  • 45 (a)
ManyToMany
vglu-3 31
  • 38 (a)
ManyToMany
vglu-2 31
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC17A8: view image

Paralogs for SLC17A8 Gene

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

  • VGLU3_HUMAN
genes like me logo Genes that share paralogs with SLC17A8: view

Variants for SLC17A8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC17A8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
595326 Uncertain Significance: not provided 100,419,948(+) G/T MISSENSE_VARIANT
681869 Likely Benign: not provided 100,418,093(+) C/T SYNONYMOUS_VARIANT
684142 Benign: not provided 100,402,291(+) C/T INTRON_VARIANT
684143 Benign: not provided 100,403,992(+) C/G INTRON_VARIANT
rs10860582 Likely Benign: Nonsyndromic Hearing Loss, Dominant 100,357,174(+) T/C FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC17A8 Gene

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)

Additional Variant Information 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

(15) MalaCards diseases for SLC17A8 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
deafness, autosomal recessive 61
  • dfnb61
deafness, autosomal dominant 64
  • dfna64
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.

Additional Disease Information for SLC17A8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 reports 2002) 2 3 4 23 54
  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 JL (American journal of human genetics 2008) 3 4 23 54
  3. The diverse roles of vesicular glutamate transporter 3. (PMID: 16722234) Seal RP … Edwards RH (Handbook of experimental pharmacology 2006) 3 23 54
  4. LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells. (PMID: 29997244) Trepte P … Wanker EE (Molecular systems biology 2018) 3 54
  5. Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles. (PMID: 28314816) Ramet L … El Mestikawy S (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 54

Products for SLC17A8 Gene

Sources for SLC17A8 Gene