Sv2a synaptic vesicle glycoprotein 2a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sv2aprovided by MGI
Official Full Name: synaptic vesicle glycoprotein 2aprovided by MGI
Primary source: MGI:MGI:1927139
See related: Ensembl:ENSMUSG00000038486 AllianceGenome:MGI:1927139
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0736
Summary: Enables protein kinase binding activity. Involved in synaptic vesicle priming. Acts upstream of or within intracellular calcium ion homeostasis. Located in cell-cell junction; neuromuscular junction; and synaptic vesicle. Is active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and presynaptic active zone. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SV2A (synaptic vesicle glycoprotein 2A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 103.9), frontal lobe adult (RPKM 80.1) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 41.65 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96088543..96102499)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (96181227..96195183)

Chromosome 3 - NC_000069.7 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 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?

An Epilepsy-Associated SV2A Mutation Disrupts Synaptotagmin-1 Expression and Activity-Dependent Trafficking.
Title: An Epilepsy-Associated SV2A Mutation Disrupts Synaptotagmin-1 Expression and Activity-Dependent Trafficking.
This study reveals fundamental details of how phosphorylation of Thr84 on SV2A controls its interaction with synaptotagmin-1 and implicates SV2A as a phospho-dependent chaperone
Title: Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1.
observed alterations of SV2A expression in hippocampus are consistent with the hypothesis that SV2A absence favors epileptic seizures around postnatal day 7
Title: Expression of SV2 isoforms during rodent brain development.
Action potential- and Ca(2+) -dependent glutamatergic & GABAergic synaptic transmission are differentially altered in the hippocampus of SV2A-deficient mice, but the mechanism of exocytosis itself is not changed.
Title: Altered balance between excitatory and inhibitory inputs onto CA1 pyramidal neurons from SV2A-deficient but not SV2B-deficient mice.
Glycosylation is dispensable for sorting of synaptotagmin 1 but is critical for targeting of SV2 and synaptophysin to recycling synaptic vesicles.
Title: Glycosylation is dispensable for sorting of synaptotagmin 1 but is critical for targeting of SV2 and synaptophysin to recycling synaptic vesicles.
study suggests that SV2A specifically regulates hilar GABAergic neurotransmission in the kindled hippocampus probably as a compensatory or prophylactic mechanism against kindling epileptogenesis
Title: Kindling-associated SV2A expression in hilar GABAergic interneurons of the mouse dentate gyrus.
Loss of synaptic vesicle glycoprotein 2a is associated with inhibition of tetanus neurotoxin into central neurons.
Title: SV2 mediates entry of tetanus neurotoxin into central neurons.
These results indicate that SV2 performs at least two actions at the synapse that contribute to neurotransmitter release.
Title: SV2 regulates neurotransmitter release via multiple mechanisms.
SV2A is selectively localized in motor nerve terminals on slow (type I and small type IIA) muscle fibers.
Title: Retrograde influence of muscle fibers on their innervation revealed by a novel marker for slow motoneurons.
SV2A (+/-) mice display significant increased avoidance of open elevated arms, and increased avoidance of the lit area during the first sessions of passive avoidance procedure without foot shock.
Title: Behavioural phenotyping reveals anxiety-like features of SV2A deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase 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 intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gamma-aminobutyric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of gamma-aminobutyric acid secretion	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle priming	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic active zone	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology more info	PubMed
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
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: synaptic vesicle glycoprotein 2A

Names: calcium regulator SV2A; synaptic vesicle glycoprotein 2 a; synaptic vesicle protein 2; synaptic vesicle protein 2A

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.