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    Syne2 spectrin repeat containing, nuclear envelope 2 [ Mus musculus (house mouse) ]

    Gene ID: 319565, updated on 28-Aug-2018

    Summary

    Official Symbol
    Syne2provided by MGI
    Official Full Name
    spectrin repeat containing, nuclear envelope 2provided by MGI
    Primary source
    MGI:MGI:2449316
    See related
    Ensembl:ENSMUSG00000063450 Vega:OTTMUSG00000033019
    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
    NUA; dice; Cpfl8; KASH2; Nesp2g; AW546258; mKIAA1011; D12Ertd777e; 6820443O06Rik
    Expression
    Broad expression in ovary adult (RPKM 15.6), genital fat pad adult (RPKM 6.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See Syne2 in Genome Data Viewer
    Location:
    12 C3; 12 33.11 cM
    Exon count:
    116
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 12 NC_000078.6 (75818318..76110928)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (76919305..77211915)

    Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 40890 Neighboring gene sphingosine-1-phosphate phosphatase 1 Neighboring gene predicted gene, 40447 Neighboring gene microRNA 5101 Neighboring gene non-histone chromosomal protein HMG-14 pseudogene Neighboring gene estrogen receptor 2 (beta) Neighboring gene testis expressed gene 21

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC96690

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    centrosome localization ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeletal anchoring at nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    establishment or maintenance of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear migration ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear migration along microfilament IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    aggresome ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    filopodium membrane ISO
    Inferred from Sequence Orthology
    more info
     
    focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    lamellipodium membrane ISO
    Inferred from Sequence Orthology
    more info
     
    meiotic nuclear membrane microtubule tethering complex ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear lumen ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    nesprin-2
    Names
    KASH domain-containing protein 2
    diminished cone electroretinogram
    nesprin 2
    nuance
    nuclear envelope spectrin repeat protein 2
    nucleus and actin connecting element protein
    synaptic nuclear envelope 2
    synaptic nuclear envelope protein 2

    NCBI Reference Sequences (RefSeq)

    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_001005510.2NP_001005510.2  nesprin-2

      See identical proteins and their annotated locations for NP_001005510.2

      Status: VALIDATED

      Source sequence(s)
      AC115714, AC159897, AC164121, AC166991
      Consensus CDS
      CCDS49091.1
      UniProtKB/Swiss-Prot
      Q6ZWQ0
      Related
      ENSMUSP00000047697.9, ENSMUST00000044217.15
      Conserved Domains (8) summary
      COG1196
      Location:32474049
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:14142000
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:61246334
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:26923557
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:184283
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68456874
      KASH; Nuclear envelope localization domain
      cl02488
      Location:48685039
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000078.6 Reference GRCm38.p4 C57BL/6J

      Range
      75818318..76110928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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