Entity Details

Primary name SLC17A8
Entity type gene
Source Source Link

Details

PrimaryID246213
RefseqGeneNG_021175
SymbolSLC17A8
Namesolute carrier family 17 member 8
Chromosome12
Location12q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-05-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsVGLU3_HUMAN

GO terms

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GOName
GO:0003407 neural retina development
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005326 neurotransmitter transmembrane transporter activity
GO:0005771 multivesicular body
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006820 anion transport
GO:0007420 brain development
GO:0007605 sensory perception of sound
GO:0015293 symporter activity
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0030285 integral component of synaptic vesicle membrane
GO:0030672 synaptic vesicle membrane
GO:0035249 synaptic transmission, glutamatergic
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0050803 regulation of synapse structure or activity
GO:0060076 excitatory synapse
GO:0090102 cochlea development
GO:0097440 apical dendrite
GO:0097441 basal dendrite
GO:0097451 glial limiting end-foot
GO:0098700 neurotransmitter loading into synaptic vesicle
GO:1990030 pericellular basket

Diseases

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Disease IDSourceNameDescription
605583 OMIMDeafness, autosomal dominant, 25 (DFNA25)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
SLC17A8YIPF6BioGRID, IntAct32296183 details
SLC17A8TMEM120BBioGRID, IntAct32296183 details
SLC17A8CYP4F2BioGRID, IntAct32296183 details
SLC17A8DNAJC5BioGRID, IntAct29997244 details