Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc6a5provided by MGI
Official Full Name: solute carrier family 6 (neurotransmitter transporter, glycine), member 5provided by MGI
Primary source: MGI:MGI:105090
See related: Ensembl:ENSMUSG00000039728 AllianceGenome:MGI:105090
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Glyt2; prestin
Summary: Predicted to enable glycine:sodium symporter activity. Involved in neurotransmitter reuptake. Is active in glycinergic synapse. Is expressed in several structures, including adrenal gland; central nervous system; esophagus; lens; and male reproductive gland or organ. Used to study hyperekplexia 3. Human ortholog(s) of this gene implicated in hyperekplexia 3. Orthologous to human SLC6A5 (solute carrier family 6 member 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cerebellum adult (RPKM 13.1), CNS E14 (RPKM 1.8) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B4; 7 31.71 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (49556733..49613612)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (49906984..49963864)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

that the deletion of VIAAT in GlyT2-Cre expressing neurons also strongly affects GABAergic transmission
Title: Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.
Results suggest that the excessive GAT-1 and GlyT-1/2 heterotransporter-mediated Glu release, in the spinal cord of SOD1(G93A) mice, is due to the heterotransporter over-expression at the nerve terminal membrane, promoted by the excessive Glu exocytosis
Title: Exocytosis regulates trafficking of GABA and glycine heterotransporters in spinal cord glutamatergic synapses: a mechanism for the excessive heterotransporter-induced release of glutamate in experimental amyotrophic lateral sclerosis.
Report that in the presence of a GlyT2 mechanism-based toxicity, reversible inhibitors might allow a tolerable balance between efficacy and toxicity.
Title: Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.
These alterations in the activities and expression profiles of the GlyTs suggest that the contributions of GlyT1 and GlyT2 to the regulation of extracellular glycine concentrations at glycinergic synapses changes during development.
Title: Transport activities and expression patterns of glycine transporters 1 and 2 in the developing murine brain stem and spinal cord.
Data show that the GlyT2 protein is undetectable in homozygous mutants, indicating a null allele.
Title: A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.
In the first postnatal week, loss of the glycine transporter 2 is neither compensated by glycine de-novo synthesis nor by up-regulation of the GABAergic transmission in GlyT2(-/-) mice.
Title: Development of synaptic inhibition in glycine transporter 2 deficient mice.
our results demonstrate the central role played by GlyT2 in determining inhibitory phenotype and therefore in the physiology and pathology of inhibitory circuits.
Title: The glycine transporter GlyT2 controls the dynamics of synaptic vesicle refilling in inhibitory spinal cord neurons.
These data indicate that the C-terminal PDZ-ligand motif of GlyT2 plays an important role in transporter trafficking to and/or stabilization at synaptic sites.
Title: The C-terminal PDZ-ligand motif of the neuronal glycine transporter GlyT2 is required for efficient synaptic localization.
Glyt2-mediated release of glycine from axon terminals involves exocytosis triggered by intraterminal mitochondrial Ca2+ ions.
Title: Mechanisms of [(3)H]glycine release from mouse spinal cord synaptosomes selectively labeled through GLYT2 transporters.
investigation of function by gene targeting experiments
Title: Gene structure and alternative splicing of the mouse glycine transporter type-2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Spontaneous (1)
Targeted (4) 1 citation

General gene information

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Markers

Slc6a5 (e-PCR), detects polymorphism
- UniSTS:547358

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glycine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables glycine:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine:sodium symporter activity	ISO Inferred from Sequence Orthology more info
enables glycine:sodium symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in glycine import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycine import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in glycine transport	IEA Inferred from Electronic Annotation more info
involved_in glycine transport	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter reuptake	EXP Inferred from Experiment more info	PubMed
involved_in neurotransmitter reuptake	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter uptake	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, glycinergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, glycinergic	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dense core granule	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in glycinergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glycinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glycinergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glycinergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium- and chloride-dependent glycine transporter 2

Names: glyT-2; glycine transporter 2; solute carrier family 6 member 5

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_001146013.2 → NP_001139485.1 sodium- and chloride-dependent glycine transporter 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (a) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC116694, AC135354

UniProtKB/Swiss-Prot

Q761V0, Q8CFM5, Q91ZQ2

Conserved Domains (1) summary

cd11499
Location:193 → 789

SLC6sbd_GlyT2; Na(+)- and Cl(-)-dependent glycine transporter GlyT2; solute-binding domain
NM_148931.4 → NP_683733.2 sodium- and chloride-dependent glycine transporter 2 isoform b

See identical proteins and their annotated locations for NP_683733.2

Status: VALIDATED

Description

Transcript Variant: This variant (b) uses an alternate exon at it's 5'-most end that results in the use of an in-frame downstream start codon, compared to variant a, and a protein (isoform b) with a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC116694, AC135354

Consensus CDS

CCDS21308.1

UniProtKB/Swiss-Prot

Q761V0, Q8CFM5, Q91ZQ2

UniProtKB/TrEMBL

B2RQX9

Related

ENSMUSP00000146917.2, ENSMUST00000207753.2

Conserved Domains (1) summary

cd11499
Location:185 → 781

SLC6sbd_GlyT2; Na(+)- and Cl(-)-dependent glycine transporter GlyT2; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

49556733..49613612

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540546.5 → XP_006540609.1 sodium- and chloride-dependent glycine transporter 2 isoform X2

UniProtKB/Swiss-Prot

Q761V0, Q8CFM5, Q91ZQ2

Conserved Domains (1) summary

cd11499
Location:208 → 804

SLC6sbd_GlyT2; Na(+)- and Cl(-)-dependent glycine transporter GlyT2; solute-binding domain
XM_006540549.3 → XP_006540612.1 sodium- and chloride-dependent glycine transporter 2 isoform X5

Conserved Domains (1) summary

cl00456
Location:1 → 553

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_006540545.4 → XP_006540608.1 sodium- and chloride-dependent glycine transporter 2 isoform X1

UniProtKB/Swiss-Prot

Q761V0, Q8CFM5, Q91ZQ2

Conserved Domains (1) summary

cd11499
Location:225 → 821

SLC6sbd_GlyT2; Na(+)- and Cl(-)-dependent glycine transporter GlyT2; solute-binding domain
XM_006540548.2 → XP_006540611.1 sodium- and chloride-dependent glycine transporter 2 isoform X4

Conserved Domains (1) summary

cl00456
Location:58 → 654

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain