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

    Gene ID: 319565, updated on 4-Jan-2025

    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 AllianceGenome:MGI:2449316
    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; mKIAA1011; D12Ertd777e; 6820443O06Rik
    Summary
    Enables actin binding activity. Involved in several processes, including centrosome localization; nuclear migration; and regulation of cilium assembly. Located in Z disc and nuclear membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in ovary adult (RPKM 15.6), genital fat pad adult (RPKM 6.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See Syne2 in Genome Data Viewer
    Location:
    12 C3; 12 33.11 cM
    Exon count:
    116
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (75865092..76157702)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (75818318..76110928)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40890 Neighboring gene sphingosine-1-phosphate phosphatase 1 Neighboring gene predicted gene, 40447 Neighboring gene STARR-seq mESC enhancer starr_32502 Neighboring gene STARR-seq mESC enhancer starr_32504 Neighboring gene STARR-seq mESC enhancer starr_32505 Neighboring gene microRNA 5101 Neighboring gene STARR-seq mESC enhancer starr_32508 Neighboring gene estrogen receptor 2 (beta) Neighboring gene non-histone chromosomal protein HMG-14 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr12:77297652-77297952 Neighboring gene STARR-seq mESC enhancer starr_32511 Neighboring gene STARR-seq mESC enhancer starr_32513 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC96690

    Gene Ontology Provided by MGI

    Items 1 - 20 of 27
    Component Evidence Code Pubs
    located_in Z disc PubMed 
    located_in Z disc  
    located_in cytoplasm  
    located_in filopodium membrane  
    located_in filopodium membrane  
    located_in focal adhesion  
    located_in focal adhesion  
    located_in intermediate filament cytoskeleton  
    located_in intermediate filament cytoskeleton  
    located_in lamellipodium membrane  
    located_in lamellipodium membrane  
    part_of meiotic nuclear membrane microtubule tethering complex  
    part_of meiotic nuclear membrane microtubule tethering complex  
    located_in mitochondrion  
    located_in mitochondrion  
    located_in myofibril PubMed 
    located_in nuclear envelope PubMed 
    located_in nuclear envelope  
    located_in nuclear envelope  
    located_in nuclear lumen  
    located_in nuclear membrane PubMed 
    located_in nuclear membrane  
    located_in nuclear outer membrane  
    located_in nucleoplasm  
    located_in nucleus  
    located_in sarcoplasmic reticulum  
    located_in sarcoplasmic reticulum membrane  
    Items 1 - 20 of 27

    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)

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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_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
      Q640M5, Q6ZWQ0
      UniProtKB/TrEMBL
      E9QP46
      Related
      ENSMUSP00000047697.10, ENSMUST00000044217.16
      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: 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_000078.7 Reference GRCm39 C57BL/6J

      Range
      75865092..76157702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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