SLC17A8
Solute Carrier Family 17 Member 8 (Vesicular Glutamate Transporter 3)
Gene Information Card
| Symbol | SLC17A8 |
|---|---|
| Full Name | Solute Carrier Family 17 Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 246213 ncbi.nlm.nih.gov/gene/246213 |
| Ensembl ID | ENSG00000179542 |
| UniProt ID | Q8NDX2 |
| OMIM ID | 607557 |
| HGNC ID | 20151 |
| Aliases | VGLUT3, VNUT3 |
Description
SLC17A8 encodes vesicular glutamate transporter 3 (VGLUT3), a protein that loads glutamate into synaptic vesicles for exocytotic release. VGLUT3 is expressed in subsets of neurons, including inner hair cells of the cochlea, and in non-neuronal tissues. Mutations in SLC17A8 cause autosomal dominant nonsyndromic hearing loss (DFNA25).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 25 (DFNA25) | Missense mutations impair glutamate loading into synaptic vesicles of cochlear inner hair cells, reducing auditory neurotransmission. | OMIM #607557; ClinVar pathogenic variants |
| Deafness, autosomal dominant, 25 | Same mechanism as DFNA25; progressive high-frequency hearing loss. | OMIM #605192 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.1 | Low |
| Cochlea | N/A | High (RNA-seq from inner hair cells) |
| Testis | 0.8 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.5 | Low expression |
| HEK293 | 0.1 | Not detected |
| Hair cell line (HEI-OC1) | N/A | Expressed (RT-PCR) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125C>T (p.Ala42Val) | Missense | Rare | Loss of glutamate transport; associated with DFNA25 |
| c.632G>A (p.Arg211His) | Missense | Rare | Impaired vesicular loading; hearing loss |
Mutation functional classification
Loss of Function (LOF)
p.Ala42Val reduces glutamate uptake into vesicles.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
p.Arg211His may interfere with wild-type VGLUT3 oligomerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurotransmitter release cycle (R-HSA-112310)
• Glutamate neurotransmitter release cycle (R-HSA-210500)
Protein Summary
VGLUT3 (SLC17A8) is a 589-amino acid multi-pass membrane protein that mediates the uptake of glutamate into synaptic vesicles at presynaptic terminals. It is essential for glutamatergic neurotransmission in the auditory system. The protein contains 12 transmembrane domains and functions as a proton-coupled antiporter.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC17A8 Knockout HEK293 Cell Line | EDJ-KQ3835 | Human | 246213 | Details Get a Quote |
| SLC17A8 Knockout HeLa Cell Line | EDJ-KQ59229 | Human | 246213 | Details Get a Quote |
| SLC17A8 Knockout A-549 Cell Line | EDJ-KQ67697 | Human | 246213 | Details Get a Quote |
| SLC17A8 Knockout HCT 116 Cell Line | EDJ-KQ76081 | Human | 246213 | Details Get a Quote |
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