AlphaFold predicted structure
SLC17A8 · Q8NDX2

Mean pLDDT
77.9/ 100
Confident
589 residues
Confidence breakdown
- Very high(≥ 90)46%
- Confident(70–90)26%
- Low(50–70)9%
- Very low(< 50)20%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
solute carrier family 17 member 8
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownautosomal dominant nonsyndromic hearing loss
Non-syndromic genetic deafness
hearing loss disorder
nonsyndromic genetic hearing loss
auditory neuropathy
non-small cell lung carcinoma
hereditary disease
Rolandic epilepsy
juvenile myoclonic epilepsy
developmental and/or epileptic encephalopathy with spike-wave activation in sleep
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Vesicular glutamate transporter 3
Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:12151341, PubMed:33440152). At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:12151341). The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:12151341). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable). The symporter activity is electrogenic (PubMed:33440152). Moreover, operates synergistically with SLC18A3/VACHT under a constant H(+) gradient, thereby allowing striatal vesicular acetylcholine uptake (By similarity)
Curated MONDO disease pages that list SLC17A8 among their top associated genes.
SLC17A8 · Q8NDX2

Mean pLDDT
77.9/ 100
Confident
589 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0