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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC17A6
solute carrier family 17 member 6
Chromosome 11 · 11p14.3
NCBI Gene: 57084Ensembl: ENSG00000091664.9HGNC: HGNC:16703UniProt: Q9P2U8
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphate ion homeostasisL-glutamate uniporter activitysynaptic vesicle membraneL-glutamate importduodenal ulceratrial fibrillationdisorder of earpreeclampsia
✦AI Summary

SLC17A6 encodes a vesicular glutamate transporter (VGLUT2) that functions as a multifunctional transporter at synaptic vesicle membranes. Its primary role is to package L-glutamate into synaptic vesicles at presynaptic terminals of excitatory neurons, driven by the proton electrochemical gradient established by vacuolar H+-ATPase 1. The transporter also mediates phosphate and chloride ion transport, with K+/H+ antiporter activity maintaining the electrical gradient necessary for sustained glutamate uptake 1. At the plasma membrane following exocytosis, SLC17A6 functions as a Na+/phosphate symporter regulating synaptic phosphate homeostasis 2. Clinically, SLC17A6 dysfunction is implicated in multiple neurological disorders. It is identified as a hub gene in early Alzheimer's disease, specifically linked to synaptic abnormalities 3. SLC17A6 expression changes are also detected in schizophrenia, particularly within GABAergic and excitatory neuronal subpopulations in the ventral midbrain 4. Genetic variants in SLC17A6 show gene-by-smoking interactions affecting Parkinson's disease susceptibility 5, and reduced SLC17A6 expression in the subthalamic nucleus causes motor and reward-related behavioral alterations with mesostriatal dopamine system dysfunction 6. Additionally, SLC17A6 dysfunction is associated with encephalo-dysplasia through altered N-glycosylase expression and endoplasmic reticulum stress 7.

Sources cited
1
SLC17A6 functions as L-glutamate uniporter in synaptic vesicles, driven by proton electrochemical gradient from H+-ATPase
PMID: 11698620
2
SLC17A6 functions as Na+/phosphate symporter at plasma membrane for synaptic phosphate homeostasis
PMID: 10820226
3
SLC17A6 identified as hub gene marker for early Alzheimer's disease subtype linked to synaptic dysfunction
PMID: 39650656
4
SLC17A6 expressed in excitatory and mixed neuronal populations of schizophrenia-affected ventral midbrain
PMID: 39397771
5
SLC17A6 rs1900586 SNP shows gene-by-smoking interaction affecting Parkinson's disease risk
PMID: 29352099
6
Reduced SLC17A6/Vglut2 in subthalamic nucleus causes behavioral hyperlocomotion, altered reward response, and dopamine system dysfunction
PMID: 27699212
7
SLC17A6 protein expression increased in CDK5RAP3 deficiency, contributing to encephalo-dysplasia and neuronal development abnormalities
PMID: 40188151
Disease Associationsⓘ20
duodenal ulcerOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.29Weak
disorder of earOpen Targets
0.16Weak
nerve plexus diseaseOpen Targets
0.11Weak
preeclampsiaOpen Targets
0.11Weak
smoking initiationOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.09Suggestive
cardiomyopathyOpen Targets
0.09Suggestive
Chédiak-Higashi syndromeOpen Targets
0.07Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
injuryOpen Targets
0.05Suggestive
multinodular goiterOpen Targets
0.05Suggestive
glomerulonephritisOpen Targets
0.04Suggestive
familial primary pulmonary hypoplasiaOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.04Suggestive
astrocytomaOpen Targets
0.04Suggestive
Congenital myasthenic syndromesOpen Targets
0.03Suggestive
Progressive supranuclear palsy - pure akinesia with gait freezingOpen Targets
0.03Suggestive
progressive supranuclear palsy-pure akinesia with gait freezing syndromeOpen Targets
0.03Suggestive
TinnitusOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC1A2Protein interaction99%SLC18A1Protein interaction99%SLC18A2Protein interaction99%SLC18A3Protein interaction99%SLC6A5Protein interaction99%GABBR2Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Liver
0%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SLC17A6SLC1A2SLC18A1SLC18A2SLC18A3SLC6A5GABBR2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9P2U8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.36–0.67]
RankingsWhere SLC17A6 stands among ~20K protein-coding genes
  • #11,610of 20,598
    Most Researched32
  • #4,915of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedSLC17A6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of early Alzheimer's disease subclass and signature genes based on PANoptosis genes.
PMID: 39650656
Front Immunol · 2024
1.00
2
Reduced
PMID: 27699212
eNeuro · 2016
0.90
3
Smoking and Parkinson disease: Evidence for gene-by-smoking interactions.
PMID: 29352099
Neurology · 2018
0.80
4
SLC17A6/7/8 Vesicular Glutamate Transporter Homologs in Nematodes.
PMID: 31776169
Genetics · 2020
0.70
5
Assignment of SLC17A6 (alias DNPI), the gene encoding brain/pancreatic islet-type Na+-dependent inorganic phosphate cotransporter to human chromosome 11p14.3.
PMID: 11306821
Cytogenet Cell Genet · 2001
0.60