Syn2 synapsin II [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Syn2provided by MGI
Official Full Name: synapsin IIprovided by MGI
Primary source: MGI:MGI:103020
See related: Ensembl:ENSMUSG00000009394 AllianceGenome:MGI:103020
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: 2900074L19Rik
Summary: Enables identical protein binding activity. Involved in calcium-ion regulated exocytosis and synaptic vesicle clustering. Acts upstream of or within neurotransmitter secretion. Located in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and synaptic vesicle membrane. Part of SNARE complex. Is expressed in several structures, including central nervous system; eye; intercostal muscle; nerve; and reproductive system. Used to study autism spectrum disorder and epilepsy. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human SYN2 (synapsin II). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in frontal lobe adult (RPKM 55.8), cortex adult (RPKM 52.0) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E3; 6 53.2 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (115111863..115259587)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (115134902..115282626)

Chromosome 6 - NC_000072.7 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: 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?

The interaction of Synapsin 2a and Synaptogyrin-3 regulates fear extinction in mice.
Title: The interaction of Synapsin 2a and Synaptogyrin-3 regulates fear extinction in mice.
Early endocannabinoid-mediated depolarization-induced suppression of excitation delays the appearance of the epileptic phenotype in synapsin II knockout mice.
Title: Early endocannabinoid-mediated depolarization-induced suppression of excitation delays the appearance of the epileptic phenotype in synapsin II knockout mice.
Synapsin II regulates synaptic transmission and neurite growth in cultured hippocampal neurons.
Title: Growth and excitability at synapsin II deficient hippocampal neurons.
results reveal a permissive contribution of Syn2 to the expression of normal socio-communicative behavior
Title: The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.
These results reveal a new SynII function in the regulation of the time course of GABA release and demonstrate that this function is dependent on the interneuron subtype.
Title: Synapsin II Regulation of GABAergic Synaptic Transmission Is Dependent on Interneuron Subtype.
This study demonstrated that synapsin 2 regulating GABA Release from Hippocampal Interneurons.
Title: Synapsin Isoforms Regulating GABA Release from Hippocampal Interneurons.
Pharmacological and knockdown experiments showed that activation of sympathetic neurons by SCFA propionate involves SCFA receptor GPR41 linking to Gbetagamma-PLCbeta3-ERK1/2-synapsin 2
Title: Short-chain fatty acid receptor GPR41-mediated activation of sympathetic neurons involves synapsin 2b phosphorylation.
Deletion of synapsin II, a presynaptic protein contributing to epilepsy predisposition in humans, leads to a loss of tonic inhibition in mouse hippocampal slices due to a dramatic decrease in presynaptic asynchronous GABA release.
Title: Asynchronous GABA Release Is a Key Determinant of Tonic Inhibition and Controls Neuronal Excitability: A Study in the Synapsin II-/- Mouse.
This study demonostrated that Epileptic synapsin triple knockout mice exhibit progressive long-term aberrant plasticity in the entorhinal cortex.
Title: Epileptic synapsin triple knockout mice exhibit progressive long-term aberrant plasticity in the entorhinal cortex.
In synapsin II(-) hippocampal neurons an overexcitable phenotype was observed.
Title: Synapsin II and Rab3a cooperate in the regulation of epileptic and synaptic activity in the CA1 region of the hippocampus.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235524

AF096867 (e-PCR)
- UniSTS:163397

32.MMHAP4FRC11.seq (e-PCR)
- UniSTS:123986

D6Mit366 (e-PCR), detects polymorphism
- UniSTS:130920

D3S732 (e-PCR)
- UniSTS:147599

Syn2 (e-PCR), detects polymorphism
- UniSTS:144528

Syn2 (e-PCR), detects polymorphism
- UniSTS:144529

Syn2 (e-PCR), detects polymorphism
- UniSTS:144530

RH118303 (e-PCR)
- UniSTS:123833

Results_H8_11_95_11.55_AM42.seq (e-PCR)
- UniSTS:125626

BI295795 (e-PCR)
- UniSTS:246722

AI841723 (e-PCR)
- UniSTS:179441

AI836018 (e-PCR)
- UniSTS:164338

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-ion regulated exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurotransmitter secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of SNARE complex	IDA Inferred from Direct Assay more info	PubMed
located_in Schaffer collateral - CA1 synapse	IC Inferred by Curator more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_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 myelin sheath	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: synapsin-2

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_001111015.1 → NP_001104485.1 synapsin-2 isoform IIa

See identical proteins and their annotated locations for NP_001104485.1

Status: VALIDATED

Description

Transcript Variant: This variant (IIa) encodes the longer isoform (IIa).

Source sequence(s)

AC147047, AC153907, BC066004, BY705489

Consensus CDS

CCDS51874.1

UniProtKB/Swiss-Prot

Q64332, Q6NZR0, Q9QWV7

Related

ENSMUSP00000009538.6, ENSMUST00000009538.12

Conserved Domains (3) summary

pfam02078
Location:116 → 213

Synapsin; Synapsin, N-terminal domain

pfam02750
Location:215 → 417

Synapsin_C; Synapsin, ATP binding domain

pfam10581
Location:2 → 30

Synapsin_N; Synapsin N-terminal
NM_001326560.1 → NP_001313489.1 synapsin-2 isoform IIc

Status: VALIDATED

Description

Transcript Variant: This variant (IIc) differs in the 5' and 3' UTRs and has multiple coding region differences, including an alternate start codon and novel 3' coding region, compared to variant 1. It encodes isoform IIc which is shorter and has distinct N- and C-termini, compared to isoform IIa.

Source sequence(s)

AK013810, AK029181, AV342495, BY772774, CX207371

UniProtKB/TrEMBL

Q8CE19

Related

ENSMUST00000204617.3

Conserved Domains (2) summary

pfam02078
Location:1 → 47

Synapsin; Synapsin, N-terminal domain

pfam02750
Location:49 → 251

Synapsin_C; Synapsin, ATP binding domain
NM_013681.3 → NP_038709.1 synapsin-2 isoform IIb

See identical proteins and their annotated locations for NP_038709.1

Status: VALIDATED

Description

Transcript Variant: This variant (IIb) lacks two exons and its 3' terminal exon extends past a splice site that is used in variant IIa. This results in a novel 3' coding region and 3' UTR, compared to variant IIa. It encodes isoform IIb which is shorter and has a distinct C-terminus, compared to isoform IIa.

Source sequence(s)

AC147047, AK013810, AK029181, AV342495, BC066004, BM114311, BM951908, BY705489, CX207371

Consensus CDS

CCDS51875.1

UniProtKB/Swiss-Prot

Q64332

UniProtKB/TrEMBL

Q8CE19

Related

ENSMUSP00000133121.2, ENSMUST00000169345.4

Conserved Domains (3) summary

pfam02078
Location:116 → 213

Synapsin; Synapsin, N-terminal domain

pfam02750
Location:215 → 417

Synapsin_C; Synapsin, ATP binding domain

pfam10581
Location:2 → 30

Synapsin_N; Synapsin N-terminal