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

    Gene ID: 233066, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in kidney adult (RPKM 27.7), limb E14.5 (RPKM 16.7) and 23 other tissues See more
    Orthologs
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    Genomic context

    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

    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

    Variation

    Alleles

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

    General protein information

    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_001290565.2NP_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:276305
      KASH; Nuclear envelope localization domain
    2. NM_153577.3NP_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:116197
      SPEC; Spectrin repeats
      pfam10541
      Location:359388
      KASH; Nuclear envelope localization domain
      pfam16056
      Location:270339
      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)