Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	246213
Gene name	Solute carrier family 17 member 8
Gene symbol	SLC17A8
Synonyms (NCBI Gene)	DFNA25VGLUT3
Chromosome	12
Chromosome location	12q23.1
Summary	This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromi

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918339	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs759548310	CAAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048423	hsa-miR-100-5p	CLASH	23622248
MIRT1353565	hsa-miR-1276	CLIP-seq
MIRT1353566	hsa-miR-3613-3p	CLIP-seq
MIRT1353567	hsa-miR-3618	CLIP-seq
MIRT1353568	hsa-miR-4311	CLIP-seq
MIRT1353569	hsa-miR-4659a-3p	CLIP-seq
MIRT1353570	hsa-miR-4659b-3p	CLIP-seq
MIRT1353571	hsa-miR-583	CLIP-seq
MIRT1353572	hsa-miR-934	CLIP-seq
MIRT1353573	hsa-miR-142-5p	CLIP-seq
MIRT1353574	hsa-miR-340	CLIP-seq
MIRT1353575	hsa-miR-3659	CLIP-seq
MIRT1353576	hsa-miR-4422	CLIP-seq
MIRT2104630	hsa-miR-136	CLIP-seq
MIRT2104631	hsa-miR-4328	CLIP-seq
MIRT2104632	hsa-miR-4528	CLIP-seq
MIRT2104633	hsa-miR-520d-5p	CLIP-seq
MIRT2104634	hsa-miR-524-5p	CLIP-seq
MIRT2104635	hsa-miR-556-3p	CLIP-seq
MIRT2623521	hsa-miR-3647-3p	CLIP-seq
MIRT2623522	hsa-miR-3942-3p	CLIP-seq
MIRT2623523	hsa-miR-4511	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003407	Process	Neural retina development	IEA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	TAS
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IBA
GO:0005436	Function	Sodium:phosphate symporter activity	IC	33440152
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	33440152
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005771	Component	Multivesicular body	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006817	Process	Phosphate ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0015291	Function	Secondary active transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	12151341
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044341	Process	Sodium-dependent phosphate transport	IC	33440152
GO:0045202	Component	Synapse	IEA
GO:0050803	Process	Regulation of synapse structure or activity	IBA
GO:0051631	Process	Regulation of acetylcholine uptake	IEA
GO:0051631	Process	Regulation of acetylcholine uptake	ISS
GO:0051938	Process	L-glutamate import	IEA
GO:0051938	Process	L-glutamate import	ISS
GO:0051951	Process	Positive regulation of glutamate uptake involved in transmission of nerve impulse	IEA
GO:0051951	Process	Positive regulation of glutamate uptake involved in transmission of nerve impulse	ISS
GO:0055062	Process	Phosphate ion homeostasis	IDA	33440152
GO:0055085	Process	Transmembrane transport	IEA
GO:0060076	Component	Excitatory synapse	IBA
GO:0060076	Component	Excitatory synapse	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0097440	Component	Apical dendrite	IEA
GO:0097441	Component	Basal dendrite	IEA
GO:0097451	Component	Glial limiting end-foot	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IBA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IDA	12097496
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IMP	12097496
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140788	Function	L-glutamate uniporter activity	IDA	12151341
GO:0140788	Function	L-glutamate uniporter activity	IEA
GO:0140788	Function	L-glutamate uniporter activity	ISS
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1990030	Component	Pericellular basket	IEA

MIM	HGNC	e!Ensembl
607557	20151	ENSG00000179520

Q8NDX2

Protein name

Vesicular glutamate transporter 3 (VGluT3) (Solute carrier family 17 member 8)

Protein function

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 upta

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	82 → 465	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus. {ECO:0000269|PubMed:12151341}.

Sequence

MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRP
SPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTA
QFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARV
HYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGV
LVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSL
SKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPH
MVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFL
VLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEW
QNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFA
SPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS

Sequence length

589

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Retrograde endocannabinoid signaling Glutamatergic synapse Nicotine addiction		Organic anion transporters Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 25	Pathogenic; Likely pathogenic	rs2135999616, rs1952754017, rs121918339, rs1366688487, rs2500206106	RCV001391305 RCV001799521 RCV000003256 RCV003991300 RCV004585132	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Auditory neuropathy spectrum disorder	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 25	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC17A8-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	BEFREE	28776199, 30324647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28776199, 30324647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23341777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	30324647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 25	Deafness	Pubtator	26797701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	Deafness	UNIPROT_DG	18674745		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	Deafness	BEFREE	26797701		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	Deafness	GENOMICS_ENGLAND_DG	30245029		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	Deafness	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	Deafness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12161595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	11115382, 26797701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31133811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	18215623, 18305245, 18674745, 22841313, 24676347, 25122905, 26797701, 28647561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	18674745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11115382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23341777		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tourette Syndrome	Tourette syndrome	Pubtator	37208127	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30556914		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC17A8 (solute carrier family 17 member 8)