Clstn2 calsyntenin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Clstn2provided by MGI
Official Full Name: calsyntenin 2provided by MGI
Primary source: MGI:MGI:1929897
See related: Ensembl:ENSMUSG00000032452 AllianceGenome:MGI:1929897
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: Cs2; CSTN2; Cst-2; mKIAA4134; 2900042C18Rik
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within positive regulation of synapse assembly and positive regulation of synaptic transmission. Located in cell surface; postsynaptic density; and postsynaptic membrane. Is integral component of postsynaptic density membrane. Is active in glutamatergic synapse. Is expressed in several structures, including brain; ear; forelimb bud; heart; and paraxial mesenchyme. Orthologous to human CLSTN2 (calsyntenin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 7.4), CNS E18 (RPKM 6.7) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.3; 9 51.06 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (97326448..97915433, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (97444395..98033373, complement)

Chromosome 9 - NC_000075.7 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?

Vocal and physical phenotypes of calsyntenin2 knockout mouse pups model early-life symptoms of the autism spectrum disorder.
Title: Vocal and physical phenotypes of calsyntenin2 knockout mouse pups model early-life symptoms of the autism spectrum disorder.
Lack of synaptic protein, calsyntenin-2, impairs morphology of synaptic complexes in mice.
Title: Lack of synaptic protein, calsyntenin-2, impairs morphology of synaptic complexes in mice.
Study explored the in vivo effects of calsyntenin-2 deficiency on emotional and social behavioral endophenotypes in a mouse, found a striking effect of sex on expression of social behavior and emotionality in Clstn2-knock-out mice, but hyperactivity coupled with pronounced repetitive behavior was observed in Clstn2-knock-out mice of both sexes.
Title: Features of emotional and social behavioral phenotypes of calsyntenin2 knockout mice.
Results confirm a function for calsyntenin-2 in cognitive performance and indicate an underlying mechanism that involves parvalbumin interneurons and aberrant inhibitory transmission
Title: Cognitive Deficits in Calsyntenin-2-deficient Mice Associated with Reduced GABAergic Transmission.

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Variation

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Alleles

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

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

General gene information

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Markers

RH127038 (e-PCR)
- UniSTS:167612

AI448973 (e-PCR)
- UniSTS:179952

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables X11-like protein binding	IEA Inferred from Electronic Annotation more info
enables amyloid-beta binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in inhibitory synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of synapse assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of synaptic transmission	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calsyntenin-2

Names: alc-gamma; alcadein-gamma

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_001413406.1 → NP_001400335.1 calsyntenin-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC112521, AC116588, AC117219, AC147637

Related

ENSMUSP00000124081.2, ENSMUST00000162295.2
NM_022319.3 → NP_071714.2 calsyntenin-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_071714.2

Status: VALIDATED

Source sequence(s)

AC112521, AC116588, AC117219, AC147637

Consensus CDS

CCDS40733.1

UniProtKB/Swiss-Prot

Q5DTM0, Q6P565, Q8C858, Q9ER65

Related

ENSMUSP00000035027.7, ENSMUST00000035027.13

Conserved Domains (1) summary

cd11304
Location:167 → 258

Cadherin_repeat; Cadherin tandem repeat 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_000075.7 Reference GRCm39 C57BL/6J

Range

97326448..97915433 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155170.1 → XP_036011063.1 calsyntenin-2 isoform X1

Conserved Domains (1) summary

cd11304
Location:207 → 298

Cadherin_repeat; Cadherin tandem repeat domain