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    Clstn2 calsyntenin 2 [ Mus musculus (house mouse) ]

    Gene ID: 64085, updated on 9-Dec-2024

    Summary

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    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. Involved in associative learning and inhibitory synapse assembly. 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 active in glutamatergic synapse and postsynaptic density membrane. 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, Dec 2024]
    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

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    See Clstn2 in Genome Data Viewer
    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_000075.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 42 Neighboring gene STARR-seq mESC enhancer starr_24994 Neighboring gene predicted gene, 25607 Neighboring gene STARR-seq mESC enhancer starr_24995 Neighboring gene STARR-seq mESC enhancer starr_24997 Neighboring gene RIKEN cDNA 4921534H16 gene Neighboring gene STARR-seq mESC enhancer starr_25001 Neighboring gene STARR-positive B cell enhancer ABC_E6795 Neighboring gene STARR-positive B cell enhancer ABC_E10579 Neighboring gene predicted gene, 46126 Neighboring gene nicotinamide nucleotide adenylyltransferase 3 Neighboring gene predicted gene 28530

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Vocal and physical phenotypes of calsyntenin2 knockout mouse pups model early-life symptoms of the autism spectrum disorder. Klenova AV, et al. Behav Brain Res, 2021 Aug 27. PMID 34182007
    2. Lack of synaptic protein, calsyntenin-2, impairs morphology of synaptic complexes in mice. Ranneva SV, et al. Synapse, 2020 Feb. PMID 31529526
    3. Cognitive Deficits in Calsyntenin-2-deficient Mice Associated with Reduced GABAergic Transmission. Lipina TV, et al. Neuropsychopharmacology, 2016 Feb. PMID 26171716, Free PMC Article
    4. Features of emotional and social behavioral phenotypes of calsyntenin2 knockout mice. Ranneva SV, et al. Behav Brain Res, 2017 Aug 14. PMID 28647593
    5. The calsyntenins--a family of postsynaptic membrane proteins with distinct neuronal expression patterns. Hintsch G, et al. Mol Cell Neurosci, 2002 Nov. PMID 12498782

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4134

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in associative learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 membrane 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 dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  

    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)

    1. 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

    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

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      97326448..97915433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      cd11304
      Location:207 → 298
      Cadherin_repeat; Cadherin tandem repeat domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ER65.2 GenPept UniProtKB/Swiss-Prot:Q9ER65

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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