Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC17A8 (solute carrier family 17 member 8)

Identity

Alias_namesDFNA25
deafness, autosomal dominant 25
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
solute carrier family 17 (vesicular glutamate transporter), member 8
Alias_symbol (synonym)VGLUT3
Other alias
HGNC (Hugo) SLC17A8
LocusID (NCBI) 246213
Atlas_Id 73306
Location 12q23.1  [Link to chromosome band 12q23]
Location_base_pair Starts at 100357079 and ends at 100422059 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC17A8   20151
Cards
Entrez_Gene (NCBI)SLC17A8  246213  solute carrier family 17 member 8
AliasesDFNA25; VGLUT3
GeneCards (Weizmann)SLC17A8
Ensembl hg19 (Hinxton)ENSG00000179520 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179520 [Gene_View]  chr12:100357079-100422059 [Contig_View]  SLC17A8 [Vega]
ICGC DataPortalENSG00000179520
TCGA cBioPortalSLC17A8
AceView (NCBI)SLC17A8
Genatlas (Paris)SLC17A8
WikiGenes246213
SOURCE (Princeton)SLC17A8
Genetics Home Reference (NIH)SLC17A8
Genomic and cartography
GoldenPath hg38 (UCSC)SLC17A8  -     chr12:100357079-100422059 +  12q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC17A8  -     12q23.1   [Description]    (hg19-Feb_2009)
EnsemblSLC17A8 - 12q23.1 [CytoView hg19]  SLC17A8 - 12q23.1 [CytoView hg38]
Mapping of homologs : NCBISLC17A8 [Mapview hg19]  SLC17A8 [Mapview hg38]
OMIM605583   607557   
Gene and transcription
Genbank (Entrez)AJ459241 AK128319 BC117229 BC143396 HQ258284
RefSeq transcript (Entrez)NM_001145288 NM_139319
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC17A8
Cluster EST : UnigeneHs.116871 [ NCBI ]
CGAP (NCI)Hs.116871
Alternative Splicing GalleryENSG00000179520
Gene ExpressionSLC17A8 [ NCBI-GEO ]   SLC17A8 [ EBI - ARRAY_EXPRESS ]   SLC17A8 [ SEEK ]   SLC17A8 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC17A8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)246213
GTEX Portal (Tissue expression)SLC17A8
Human Protein AtlasENSG00000179520-SLC17A8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDX2
Splice isoforms : SwissVarQ8NDX2
PhosPhoSitePlusQ8NDX2
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)MFS    MFS_dom   
Domain families : Pfam (Sanger)MFS_1 (PF07690)   
Domain families : Pfam (NCBI)pfam07690   
Conserved Domain (NCBI)SLC17A8
DMDM Disease mutations246213
Blocks (Seattle)SLC17A8
SuperfamilyQ8NDX2
Human Protein Atlas [tissue]ENSG00000179520-SLC17A8 [tissue]
Peptide AtlasQ8NDX2
HPRD10457
IPIIPI00168611   IPI00783759   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDX2
IntAct (EBI)Q8NDX2
FunCoupENSG00000179520
BioGRIDSLC17A8
STRING (EMBL)SLC17A8
ZODIACSLC17A8
Ontologies - Pathways
QuickGOQ8NDX2
Ontology : AmiGOneural retina development  L-glutamate transmembrane transporter activity  L-glutamate transmembrane transporter activity  multivesicular body  ion transport  sodium ion transport  neurotransmitter transport  brain development  sensory perception of sound  symporter activity  integral component of membrane  cell junction  synaptic vesicle membrane  synaptic vesicle membrane  perikaryon  axon terminus  excitatory synapse  L-glutamate transmembrane transport  cochlea development  apical dendrite  basilar dendrite  glial limiting end-foot  pericellular basket  
Ontology : EGO-EBIneural retina development  L-glutamate transmembrane transporter activity  L-glutamate transmembrane transporter activity  multivesicular body  ion transport  sodium ion transport  neurotransmitter transport  brain development  sensory perception of sound  symporter activity  integral component of membrane  cell junction  synaptic vesicle membrane  synaptic vesicle membrane  perikaryon  axon terminus  excitatory synapse  L-glutamate transmembrane transport  cochlea development  apical dendrite  basilar dendrite  glial limiting end-foot  pericellular basket  
Pathways : KEGGSynaptic vesicle cycle    Retrograde endocannabinoid signaling    Glutamatergic synapse    Nicotine addiction   
NDEx NetworkSLC17A8
Atlas of Cancer Signalling NetworkSLC17A8
Wikipedia pathwaysSLC17A8
Orthology - Evolution
OrthoDB246213
GeneTree (enSembl)ENSG00000179520
Phylogenetic Trees/Animal Genes : TreeFamSLC17A8
HOVERGENQ8NDX2
HOGENOMQ8NDX2
Homologs : HomoloGeneSLC17A8
Homology/Alignments : Family Browser (UCSC)SLC17A8
Gene fusions - Rearrangements
Tumor Fusion PortalSLC17A8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC17A8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC17A8
dbVarSLC17A8
ClinVarSLC17A8
1000_GenomesSLC17A8 
Exome Variant ServerSLC17A8
ExAC (Exome Aggregation Consortium)ENSG00000179520
GNOMAD BrowserENSG00000179520
Genetic variants : HAPMAP246213
Genomic Variants (DGV)SLC17A8 [DGVbeta]
DECIPHERSLC17A8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC17A8 
Mutations
ICGC Data PortalSLC17A8 
TCGA Data PortalSLC17A8 
Broad Tumor PortalSLC17A8
OASIS PortalSLC17A8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC17A8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC17A8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC17A8
DgiDB (Drug Gene Interaction Database)SLC17A8
DoCM (Curated mutations)SLC17A8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC17A8 (select a term)
intoGenSLC17A8
Cancer3DSLC17A8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605583    607557   
Orphanet12046   
DisGeNETSLC17A8
MedgenSLC17A8
Genetic Testing Registry SLC17A8
NextProtQ8NDX2 [Medical]
TSGene246213
GENETestsSLC17A8
Target ValidationSLC17A8
Huge Navigator SLC17A8 [HugePedia]
snp3D : Map Gene to Disease246213
BioCentury BCIQSLC17A8
ClinGenSLC17A8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD246213
Chemical/Pharm GKB GenePA223010
Clinical trialSLC17A8
Miscellaneous
canSAR (ICR)SLC17A8 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC17A8
EVEXSLC17A8
GoPubMedSLC17A8
iHOPSLC17A8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:27:24 CET 2017

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