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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	246213
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 17 member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC17A8
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA25, VGLUT3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA25
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003407	Process	Neural retina development	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA	21873635
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IBA	21873635
GO:0005771	Component	Multivesicular body	IEA
GO:0006811	Process	Ion transport	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006820	Process	Anion transport	IBA	21873635
GO:0007420	Process	Brain development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0030285	Component	Integral component of synaptic vesicle membrane	IBA	21873635
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA	21873635
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0050803	Process	Regulation of synapse structure or activity	IBA	21873635
GO:0060076	Component	Excitatory synapse	IBA	21873635
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	21873635
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IDA	12097496
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IMP	12097496
GO:1990030	Component	Pericellular basket	IEA

MIM	HGNC	e!Ensembl
607557	20151	ENSG00000179520

Protein

UniProt ID

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)

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Deafness	DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	30245029, 18674745
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	18215623, 28647561, 18674745, 25122905, 26797701, 18305245, 22841313, 24676347

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Carcinoma	Carcinoma			GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Squamous Cell	Associate	23341777
Deafness Autosomal Dominant 25	Associate	26797701
Hearing Loss	Associate	12161595
Hearing Loss Sensorineural	Associate	11115382, 26797701
Nonsyndromic sensorineural hearing loss	Associate	11115382, 26797701
Tourette Syndrome	Associate	37208127

SLC17A8 (solute carrier family 17 member 8)