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
341451962021The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.1
341451962021The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.1
328737472020Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior.8
328737472020Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior.8
283148162017Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.11
286475612017Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.7
283148162017Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.11
286475612017Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.7
267977012016Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.10
267977012016Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.10
262392902015The absence of VGLUT3 predisposes to cocaine abuse by increasing dopamine and glutamate signaling in the nucleus accumbens.31
265587712015Loss of VGLUT3 Produces Circadian-Dependent Hyperdopaminergia and Ameliorates Motor Dysfunction and l-Dopa-Mediated Dyskinesias in a Model of Parkinson's Disease.27
262392902015The absence of VGLUT3 predisposes to cocaine abuse by increasing dopamine and glutamate signaling in the nucleus accumbens.31
265587712015Loss of VGLUT3 Produces Circadian-Dependent Hyperdopaminergia and Ameliorates Motor Dysfunction and l-Dopa-Mediated Dyskinesias in a Model of Parkinson's Disease.27
184980732008Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine.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-(solute-carrier-family-17-member-8)