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

Gene ID: 233066, updated on 11-Apr-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. Is integral component of nuclear outer membrane. Is expressed in ganglia; metanephros; olfactory epithelium; pancreas; and pituitary gland. 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, Apr 2022]
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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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. 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
  3. Mechanical forces on cellular organelles. Feng Q, et al. J Cell Sci, 2018 Oct 29. PMID 30373893
  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
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear envelope 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 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

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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