Sv2c synaptic vesicle glycoprotein 2c [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sv2cprovided by MGI
Official Full Name: synaptic vesicle glycoprotein 2cprovided by MGI
Primary source: MGI:MGI:1922459
See related: Ensembl:ENSMUSG00000051111 AllianceGenome:MGI:1922459
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: 4930527L09Rik
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within chemical synaptic transmission. Located in synaptic vesicle. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human SV2C (synaptic vesicle glycoprotein 2C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 6.9), frontal lobe adult (RPKM 2.3) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 D1; 13 50.47 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (96091102..96270837, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (95959443..96132577, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Study showed that SV2C is highly expressed in the basal ganglia and hippocampus of mice and that there is a specific and progressive decrease in SV2C mRNA and protein expression in both Huntington's disease (HD) mice and a cell model. These findings suggest that the synaptic dysfunction in HD results from the mutant Htt-mediated inhibition of SV2C transcriptional expression.
Title: Mutant Huntingtin Causes a Selective Decrease in the Expression of Synaptic Vesicle Protein 2C.
Results showed that SV2C, a poorly functionally characterized protein is strongly involved in normal operation of the basal ganglia network and could be also involved in system adaptation in basal ganglia pathological conditions.
Title: A role for Sv2c in basal ganglia functions.
SV2C protein was expressed in a small subset of brain regions including the olfactory bulb, olfactory tubercle, nucleus accumbens, caudate-putamen, ventral pallidum, globus pallidus, substantia nigra and the ventral tegmental area.
Title: Distribution of SV2C mRNA and protein expression in the mouse brain with a particular emphasis on the basal ganglia system.
findings show that botulinum neurotoxin (BoNT/A) enters neurons by binding to the synaptic vesicle protein SV2 (isoforms A, B, and C);SV2 acts as the protein receptor for BoNT/A
Title: SV2 is the protein receptor for botulinum neurotoxin A.
Botulinum neurotoxin A also interacts with a synaptic vesicle protein, the synaptic vesicle glycoprotein 2C (SV2C), but not with the homologous proteins SV2A and SV2B.
Title: The synaptic vesicle protein 2C mediates the uptake of botulinum neurotoxin A into phrenic nerves.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU022207 (e-PCR)
- UniSTS:159269

AW742736 (e-PCR)
- UniSTS:207673

D13Mit144 (e-PCR), detects polymorphism
- UniSTS:116553

AW552446 (e-PCR)
- UniSTS:179046

RH126958 (e-PCR)
- UniSTS:167106

RH136141 (e-PCR)
- UniSTS:210136

NoName (e-PCR)
- UniSTS:234994

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in dopaminergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in dopaminergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: synaptic vesicle glycoprotein 2C

Names: synaptic vesicle protein 2C

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_029210.1 → NP_083486.1 synaptic vesicle glycoprotein 2C

See identical proteins and their annotated locations for NP_083486.1

Status: VALIDATED

Source sequence(s)

AC129327, AC153134

Consensus CDS

CCDS49333.1

UniProtKB/Swiss-Prot

Q69ZS6

UniProtKB/TrEMBL

A2RSH4

Related

ENSMUSP00000124473.2, ENSMUST00000161263.8

Conserved Domains (1) summary

TIGR01299
Location:1 → 727

synapt_SV2; synaptic vesicle protein SV2

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_000079.7 Reference GRCm39 C57BL/6J

Range

96091102..96270837 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158202.1 → XP_036014095.1 synaptic vesicle glycoprotein 2C isoform X1

UniProtKB/Swiss-Prot

Q69ZS6

UniProtKB/TrEMBL

A2RSH4

Conserved Domains (1) summary

TIGR01299
Location:1 → 727

synapt_SV2; synaptic vesicle protein SV2
XM_030247440.2 → XP_030103300.1 synaptic vesicle glycoprotein 2C isoform X2

Conserved Domains (1) summary

TIGR01299
Location:22 → 307

synapt_SV2; synaptic vesicle protein SV2