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    Syne4 spectrin repeat containing, nuclear envelope family member 4 [ Mus musculus (house mouse) ]

    Gene ID: 233066, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Syne4provided by MGI
    Official Full Name
    spectrin repeat containing, nuclear envelope family member 4provided by MGI
    Primary source
    MGI:MGI:2141950
    See related
    Ensembl:ENSMUSG00000019737 AllianceGenome:MGI:2141950
    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
    KASH4; Nesp4; 0610012K07Rik
    Summary
    Involved in establishment of epithelial cell apical/basal polarity. Located in nuclear outer membrane. Is expressed in several structures, including gonad; metanephros; nervous system; olfactory epithelium; and pancreas. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 76. Orthologous to human SYNE4 (spectrin repeat containing nuclear envelope family member 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney adult (RPKM 27.7), limb E14.5 (RPKM 16.7) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Syne4 in Genome Data Viewer
    Location:
    7 B1; 7 17.39 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30014268..30018471)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (30314816..30319045)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene CAP-GLY domain containing linker protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E3711 Neighboring gene alkB homolog 6 Neighboring gene STARR-positive B cell enhancer ABC_E1730 Neighboring gene STARR-positive B cell enhancer ABC_E3712 Neighboring gene succinate dehydrogenase complex assembly factor 1 Neighboring gene RIKEN cDNA 4930479H17 gene

    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. Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness. Taiber S, et al. EMBO Mol Med, 2021 Feb 5. PMID 33350593, Free PMC Article
    2. Mechanical forces on cellular organelles. Feng Q, et al. J Cell Sci, 2018 Oct 29. PMID 30373893
    3. A Nesprin-4/kinesin-1 cargo model for nuclear positioning in cochlear outer hair cells. Taiber S, et al. Front Cell Dev Biol, 2022. PMID 36211453, Free PMC Article
    4. The LINC complex is essential for hearing. Horn HF, et al. J Clin Invest, 2013 Feb. PMID 23348741, Free PMC Article
    5. Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization. Roux KJ, et al. Proc Natl Acad Sci U S A, 2009 Feb 17. PMID 19164528, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization.
      Title: Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38513

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in establishment of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of meiotic nuclear membrane microtubule tethering complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nesprin-4
    Names
    KASH domain-containing protein 4
    nuclear envelope spectrin repeat protein 4

    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_001290565.2 → NP_001277494.1  nesprin-4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC149067
      Consensus CDS
      CCDS71929.1
      UniProtKB/TrEMBL
      H3BL35
      Related
      ENSMUSP00000135637.2, ENSMUST00000176304.8
      Conserved Domains (1) summary
      pfam10541
      Location:276 → 305
      KASH; Nuclear envelope localization domain

    2. NM_153577.3 → NP_705805.1  nesprin-4 isoform 1

      See identical proteins and their annotated locations for NP_705805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC149067
      Consensus CDS
      CCDS21086.1
      UniProtKB/Swiss-Prot
      Q6PH99, Q8CII8, Q99J42
      Related
      ENSMUSP00000055874.9, ENSMUST00000054594.15
      Conserved Domains (3) summary
      smart00150
      Location:116 → 197
      SPEC; Spectrin repeats
      pfam10541
      Location:359 → 388
      KASH; Nuclear envelope localization domain
      pfam16056
      Location:270 → 339
      DUF4799; Domain of unknown function (DUF4799)

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      30014268..30018471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CII8.1 GenPept UniProtKB/Swiss-Prot:Q8CII8

    Gene LinkOut

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

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