SLC17A8 - solute carrier family 17 member 8 Gene

Also Known as DFNA25; VGLUT3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 246213

About SLC17A8

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:100,357,074-100,422,055 (from NCBI)

This gene has 4 transcripts (splice variants), 273 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 3.2), brain (RPKM 0.5) and 3 other tissues.

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 nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SLC17A8 Products (2)

mRNA	Protein	Name
NM_001145288.2	NP_001138760.1	vesicular glutamate transporter 3 isoform 2
NM_139319.3	NP_647480.1	vesicular glutamate transporter 3 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables L-glutamate uniporter activity	IDA IDA: Inferred from direct assay	12151341	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sodium:phosphate symporter activity	IDA IDA: Inferred from direct assay	33440152	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-glutamate transmembrane transport	IDA IDA: Inferred from direct assay	12151341	GOA
involved in neurotransmitter loading into synaptic vesicle	IDA IDA: Inferred from direct assay	12097496	GOA
involved in neurotransmitter loading into synaptic vesicle	IMP IMP: Inferred from mutant phenotype	12097496	GOA
involved in phosphate ion homeostasis	IDA IDA: Inferred from direct assay	33440152	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC17A8 Protein Structure

MFS_1

0
100
200
300
400
500
589 a.a.

Protein Preferred Names	Protein Names
vesicular glutamate transporter 3	solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 25	DFNA25 Autosomal Dominant Nonsyndromic Deafness 25 Autosomal Dominant Deafness 25 Deafness, Autosomal Dominant, 25 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 Deafness, Autosomal Dominant, Type 25
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Recessive 7	DFNB7 Dfnb11 Deafness, Autosomal Recessive 11 Autosomal Recessive Nonsyndromic Deafness 7 Autosomal Recessive Deafness 7 Deafness, Autosomal Recessive, 7 Deafness Neurosensory Autosomal Recessive 11 Deafness Neurosensory Autosomal Recessive 7 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 Deafness, Autosomal Recessive, Type 7
Deafness, Autosomal Dominant 64	DFNA64 Autosomal Dominant Nonsyndromic Deafness 64 Autosomal Dominant Deafness 64 Deafness, Autosomal Dominant, 64 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64 Deafness, Autosomal Dominant, Type 64
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Usher Syndrome, Type Ic	USH1C Usher Syndrome Type 1c Usher Syndrome, Type 1c Usher Syndrome Type I Acadian Variety Usher Syndrome Type Ic Usher Syndrome, Type I, Acadian Variety Usher Syndrome 1c Acadian Usher Syndrome Usher'S Syndrome Type 1c
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Cochlear Disease	Cochlear Diseases
Auditory Neuropathy, Autosomal Dominant 1	Autosomal Dominant Auditory Neuropathy 1 AUNA1 Nsdan Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy, Nonsyndromic Dominant Nonsyndromic Dominant Auditory Neuropathy Nonsyndromic Auditory Neuropathy Autosomal Dominant
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Deafness, Autosomal Dominant 36	DFNA36 Autosomal Dominant Nonsyndromic Deafness 36 Autosomal Dominant Deafness 36 Deafness, Autosomal Dominant, 36 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 Deafness, Autosomal Dominant, Type 36
Li-Fraumeni Syndrome 1	Lfs1
Deafness, Autosomal Recessive 1a	DFNB1A Deafness, Digenic, Gjb2/Gjb3 Autosomal Recessive Nonsyndromic Deafness 1a Deafness, Digenic, Gjb2/Gjb6 Deafness, Digenic Gjb2/Gjb6 Autosomal Recessive Deafness 1a Deafness, Autosomal Recessive, 1a Deafness Digenic Gjb2/Gjb3 Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1a
Deafness, Autosomal Dominant 16	DFNA16 Autosomal Dominant Nonsyndromic Deafness 16 Autosomal Dominant Deafness 16
Deafness, X-Linked 5, With Peripheral Neuropathy	Deafness, X-Linked 5 DFNX5 Aunx1 Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy X-Linked Deafness 5 X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1 X-Linked Hsan With Deafness X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness X-Linked Hsan With Hearing Loss X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss Deafness, X-Linked, 5, With Peripheral Neuropathy Deafness, X-Linked, Type 5
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13041	SLC17A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC17A8	VGNC	VGNC:77522
Mus musculus	SLC17A8	MGD	MGI:3039629
Bos taurus	SLC17A8	VGNC	VGNC:34703
Rattus norvegicus	SLC17A8	RGD	RGD:628870
Canis familiaris	SLC17A8	VGNC	VGNC:46253
Felis catus	SLC17A8	VGNC	VGNC:65224
Others	SLC17A8	NCBI