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SLC17A8 solute carrier family 17 member 8 [ Homo sapiens (human) ]

Gene ID: 246213, updated on 23-Nov-2021

Summary

Official Symbol
SLC17A8provided by HGNC
Official Full Name
solute carrier family 17 member 8provided by HGNC
Primary source
HGNC:HGNC:20151
See related
Ensembl:ENSG00000179520 MIM:607557
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA25; VGLUT3
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]
Expression
Biased expression in small intestine (RPKM 3.2), brain (RPKM 0.5) and 3 other tissues See more
Orthologs
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Genomic context

See SLC17A8 in Genome Data Viewer
Location:
12q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (100357074..100422055)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100750852..100815833)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7946 Neighboring gene actin related protein 6 Neighboring gene DEP domain containing 4 Neighboring gene SCY1 like pseudokinase 2 Neighboring gene nuclear receptor subfamily 1 group H member 4 Neighboring gene growth arrest specific 2 like 3 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal dominant 25 Compare labs
Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-02-27)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2018-02-27)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables L-glutamate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables neurotransmitter transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in L-glutamate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in anion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cochlea development IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in neural retina development IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter loading into synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neurotransmitter loading into synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neurotransmitter loading into synaptic vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of synapse structure or activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in axon terminus IEA
Inferred from Electronic Annotation
more info
 
located_in basal dendrite IEA
Inferred from Electronic Annotation
more info
 
is_active_in excitatory synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in glial limiting end-foot IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in integral component of synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in multivesicular body IEA
Inferred from Electronic Annotation
more info
 
located_in pericellular basket IEA
Inferred from Electronic Annotation
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021175.1 RefSeqGene

    Range
    4996..69977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145288.2NP_001138760.1  vesicular glutamate transporter 3 isoform 2

    See identical proteins and their annotated locations for NP_001138760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC026110, AC126308, AJ459241, AK128319, BC143396
    Consensus CDS
    CCDS44957.1
    UniProtKB/Swiss-Prot
    Q8NDX2
    Related
    ENSP00000376715.3, ENST00000392989.3
    Conserved Domains (1) summary
    cl27298
    Location:75463
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]
  2. NM_139319.3NP_647480.1  vesicular glutamate transporter 3 isoform 1

    See identical proteins and their annotated locations for NP_647480.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026110, AC126308, AJ459241, AK128319
    Consensus CDS
    CCDS9077.1
    UniProtKB/Swiss-Prot
    Q8NDX2
    Related
    ENSP00000316909.4, ENST00000323346.10
    Conserved Domains (2) summary
    cd06174
    Location:80502
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:75513
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    100357074..100422055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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