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

    Gene ID: 319565, updated on 31-Aug-2021

    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
    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
    Cpf; NUA; dic; nes; dice; syne; Cpfl8; KASH2; Nesp2g; AW546258; mKIAA1011; D12Ertd777; 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
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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
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (76919305..77211915)

    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 microRNA 5101 Neighboring gene estrogen receptor 2 (beta) Neighboring gene non-histone chromosomal protein HMG-14 pseudogene 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

    Markers

    Homology

    Clone Names

    • MGC96690

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytoskeleton-nuclear membrane anchor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in filopodium membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of meiotic nuclear membrane microtubule tethering complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    located_in nuclear lumen ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      ENSMUSP00000047697.10, 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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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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