SLC17A6 solute carrier family 17 member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC17A6provided by HGNC
Official Full Name: solute carrier family 17 member 6provided by HGNC
Primary source: HGNC:HGNC:16703
See related: Ensembl:ENSG00000091664 MIM:607563; AllianceGenome:HGNC:16703
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DNPI; VGLUT2
Summary: Predicted to enable L-glutamate transmembrane transporter activity and neurotransmitter transmembrane transporter activity. Involved in neurotransmitter loading into synaptic vesicle. Predicted to be located in synaptic vesicle. Predicted to be active in excitatory synapse. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward brain (RPKM 2.7) See more
Orthologs: mouse all
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Genomic context

Location:: 11p14.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (22338381..22379503)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (22458971..22500075)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (22359927..22401049)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Roles of VGLUT2 and Dopamine/Glutamate Co-Transmission in Selective Vulnerability to Dopamine Neurodegeneration.
Title: Roles of VGLUT2 and Dopamine/Glutamate Co-Transmission in Selective Vulnerability to Dopamine Neurodegeneration.
These findings indicate that VGluT2-expressing excitatory neurons play a crucial role in mediating nociceptive transmission in the spinal dorsal horn
Title: Regulating nociceptive transmission by VGluT2-expressing spinal dorsal horn neurons.
This study demonstrated that Protein levels of vGLUT2 were significantly increased in schizophrenia subjects compared to controls.
Title: Uncovering the role of the nucleus accumbens in schizophrenia: A postmortem analysis of tyrosine hydroxylase and vesicular glutamate transporters.
Vglut2 and oligodendrocyte progenitor cells co-localize in multiple sclerosis lesions, supporting evidence that neuronal activity and release of glutamate instruct OPCs to differentiate into new myelinating oligodendrocytes that recover lost function.
Title: Neuronal activity regulates remyelination via glutamate signalling to oligodendrocyte progenitors.
Itch is regulated by VGLUT2-mediated transmission in neurons via Trpv1.
Title: Multimodal use of calcitonin gene-related peptide and substance P in itch and acute pain uncovered by the elimination of vesicular glutamate transporter 2 from transient receptor potential cation channel subfamily V member 1 neurons.
There is a glutamatergic signal from ventral tegmental area VGluT2-habenular neurons that plays a role in aversive conditioning.
Title: Role of glutamatergic projections from ventral tegmental area to lateral habenula in aversive conditioning.
This study demonistrated that Distribution of vesicular glutamate transporter 2 (VGluT2) in the primary visual cortex(V1 area)
Title: Distribution of vesicular glutamate transporter 2 (VGluT2) in the primary visual cortex of the macaque and human.
Data indicate that GABAergic axons were labeled with vesicular inhibitory aa transporter (VIAAT) antibodies, whereas glutamatergic axons were detected with antisera against the major vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and VGLUT2.
Title: Glutamatergic and GABAergic innervation of human gonadotropin-releasing hormone-I neurons.
This study may lend support to the multiple rare mutations hypothesis of schizophrenia, and may provide genetic clues to indicate the involvement of the glutamate transmission pathway in the pathogenesis of schizophrenia.
Title: Resequencing of the vesicular glutamate transporter 2 gene (VGLUT2) reveals some rare genetic variants that may increase the genetic burden in schizophrenia.
This study decreased VGLUT2 mRNA expression in major depressive disorder in the middle temporal gyrus, and increased VGLUT2 mRNA expression in schizophrenia in the inferior temporal gyrus.
Title: Vesicular glutamate transporter mRNA expression in the medial temporal lobe in major depressive disorder, bipolar disorder, and schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2049 (e-PCR)
- UniSTS:82509

D11S865 (e-PCR)
- UniSTS:147055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-glutamate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-glutamate transmembrane transporter activity	TAS Traceable Author Statement more info
enables L-glutamate uniporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-glutamate uniporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotransmitter transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium:phosphate symporter activity	IC Inferred by Curator more info	PubMed
enables sodium:phosphate symporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in L-glutamate import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-glutamate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in hyaloid vascular plexus regression	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in neurotransmitter loading into synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter loading into synaptic vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse structure or activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-dependent phosphate transport	IC Inferred by Curator more info	PubMed
involved_in sodium-dependent phosphate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in excitatory synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: vesicular glutamate transporter 2

Names: differentiation-associated BNPI; differentiation-associated Na(+)-dependent inorganic phosphate cotransporter; differentiation-associated Na-dependent inorganic phosphate cotransporter; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6; solute carrier family 17 (vesicular glutamate transporter), member 6

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.

mRNA and Protein(s)

NM_020346.3 → NP_065079.1 vesicular glutamate transporter 2

See identical proteins and their annotated locations for NP_065079.1

Status: VALIDATED

Source sequence(s)

AB032435, BQ185289, BQ188116, CK823303, DA392769

Consensus CDS

CCDS7856.1

UniProtKB/Swiss-Prot

A6NKS2, Q9P2U8

UniProtKB/TrEMBL

B4DGA8

Related

ENSP00000263160.3, ENST00000263160.4

Conserved Domains (1) summary

cd17382
Location:74 → 498

MFS_SLC17A6_7_8_VGluT; Solute carrier family 17 members 6, 7, and 8 (also called Vesicular glutamate transporters) of the Major Facilitator Superfamily of transporters