SLC17A8 (solute carrier family 17 member 8)

2014-11-01  

Identity

HGNC
LOCATION
12q23.1
LOCUSID
ALIAS
DFNA25,VGLUT3

Other Information

Locus ID:

NCBI: 246213
MIM: 607557
HGNC: 20151
Ensembl: ENSG00000179520

Variants:

dbSNP: 246213
ClinVar: 246213
TCGA: ENSG00000179520
COSMIC: SLC17A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179520ENST00000323346Q8NDX2
ENSG00000179520ENST00000392989Q8NDX2

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Organic anion transportersREACTOMER-HSA-428643

References

Pubmed IDYearTitleCitations
186747452008Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.77
121513412002Molecular cloning and functional characterization of human vesicular glutamate transporter 3.46
176602522007Docking and homology modeling explain inhibition of the human vesicular glutamate transporters.21
262392902015The absence of VGLUT3 predisposes to cocaine abuse by increasing dopamine and glutamate signaling in the nucleus accumbens.14
265587712015Loss of VGLUT3 Produces Circadian-Dependent Hyperdopaminergia and Ameliorates Motor Dysfunction and l-Dopa-Mediated Dyskinesias in a Model of Parkinson's Disease.9
184980732008Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine.3
267977012016Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.3
283148162017Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.3
286475612017Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.3

Citation

Dessen P

SLC17A8 (solute carrier family 17 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73306/slc17a8