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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC17A8
solute carrier family 17 member 8
Chromosome 12 Β· 12q23.1
NCBI Gene: 246213Ensembl: ENSG00000179520.12HGNC: HGNC:20151UniProt: Q8NDX2
27PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sodium:phosphate symporter activityL-glutamate transmembrane transportphosphate ion homeostasisL-glutamate uniporter activityautosomal dominant nonsyndromic hearing lossNon-syndromic genetic deafnesshearing lossnonsyndromic genetic hearing loss
✦AI Summary

SLC17A8 encodes vesicular glutamate transporter 3 (VGLUT3), a multifunctional transporter primarily functioning as a uniporter that mediates L-glutamate uptake into synaptic vesicles at presynaptic nerve terminals 1. The protein is uniquely expressed in inner hair cells of the cochlea among the VGLUT isoforms, where it transports glutamate into synaptic vesicles for neurotransmitter release 2. VGLUT3 operates through an electrogenic mechanism driven by the proton electrochemical gradient established by vacuolar H+-ATPase across synaptic vesicle membranes 1. Beyond the inner ear, SLC17A8 shows tissue-specific expression patterns, including hepatocytes where VGLUT3 accumulates glutamate in vesicles and can trigger inflammatory responses in Kupffer cells 3. Mutations in SLC17A8 cause DFNA25, an autosomal dominant form of hearing loss, with pathogenic variants including frameshift mutations like p.M206Nfs*4 that produce truncated proteins lacking essential transmembrane domains 24. Gene therapy targeting SLC17A8 has shown therapeutic potential, with successful hearing restoration in adult deaf mice through cerebrospinal fluid delivery of functional SLC17A8 5. The gene's role extends to neuropsychiatric conditions, with variants identified in Tourette syndrome families 6.

Sources cited
1
VGLUT3 functions as uniporter for L-glutamate uptake driven by proton electrochemical gradient
PMID: 12151341
2
VGLUT3 is selectively expressed in inner hair cells and frameshift mutation p.M206Nfs*4 causes hearing loss
PMID: 26797701
3
Mutations c.824C>A and c.616dupA lead to defective VGLUT3 expression and auditory neuropathy
PMID: 34145196
4
Gene therapy with SLC17A8 via cerebrospinal fluid successfully restored hearing in adult deaf mice
PMID: 37379370
5
VGLUT3 accumulates glutamate in hepatocyte vesicles and triggers inflammatory responses
PMID: 40595616
6
SLC17A8 variants identified in multiplex families with Tourette syndrome
PMID: 37208127
Disease Associationsβ“˜21
autosomal dominant nonsyndromic hearing lossOpen Targets
0.69Moderate
Non-syndromic genetic deafnessOpen Targets
0.38Weak
hearing lossOpen Targets
0.37Weak
nonsyndromic genetic hearing lossOpen Targets
0.37Weak
auditory neuropathyOpen Targets
0.34Weak
non-small cell lung carcinomaOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Helicobacter pylori infectious diseaseOpen Targets
0.07Suggestive
deafnessOpen Targets
0.07Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
actinic keratosisOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
genetic developmental and epileptic encephalopathyOpen Targets
0.05Suggestive
Autosomal recessive spastic paraplegia type 44Open Targets
0.04Suggestive
juvenile myoclonic epilepsyOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
AnxietyOpen Targets
0.04Suggestive
developmental and epileptic encephalopathy 94Open Targets
0.04Suggestive
epilepsy with eyelid myocloniaOpen Targets
0.04Suggestive
Deafness, autosomal dominant, 25UniProt
Pathogenic Variants5
NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter)Pathogenic
Autosomal dominant nonsyndromic hearing loss 25
β˜…β˜†β˜†β˜†2024β†’ Residue 15
NM_139319.3(SLC17A8):c.903+1_903+6delLikely pathogenic
Autosomal dominant nonsyndromic hearing loss 25
β˜…β˜†β˜†β˜†2023
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 25
β˜…β˜†β˜†β˜†2019β†’ Residue 212
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 25|not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 211
NM_139319.3(SLC17A8):c.616dup (p.Met206fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 25
β˜†β˜†β˜†β˜†2021β†’ Residue 206
View on ClinVar β†—
Related Genes
RAB3AProtein interaction98%SLC18A1Protein interaction98%SLC18A2Protein interaction98%SLC18A3Protein interaction98%SYN1Protein interaction98%DNAJC5Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Liver
7%
Bone Marrow
1%
Ovary
1%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC17A8RAB3ASLC18A1SLC18A2SLC18A3SYN1DNAJC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NDX2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.69]
RankingsWhere SLC17A8 stands among ~20K protein-coding genes
  • #12,670of 20,598
    Most Researched27
  • #3,625of 5,498
    Most Pathogenic Variants5
  • #5,225of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedSLC17A8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dorsal raphe organization.
PMID: 33031916
J Chem Neuroanat Β· 2020
1.00
2
The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.
PMID: 34145196
Neuroreport Β· 2021
0.90
3
Delivery of gene therapy through a cerebrospinal fluid conduit to rescue hearing in adult mice.
PMID: 37379370
Sci Transl Med Β· 2023
0.80
4
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
PMID: 40164689
Exp Mol Med Β· 2025
0.70
5
Genomic variants and inferred biological processes in multiplex families with Tourette syndrome.
PMID: 37208127
J Psychiatry Neurosci Β· 2023
0.60