Format

Send to:

Choose Destination
    • Showing Current items.

    SYNE4 spectrin repeat containing nuclear envelope family member 4 [ Homo sapiens (human) ]

    Gene ID: 163183, updated on 17-Jun-2019

    Summary

    Official Symbol
    SYNE4provided by HGNC
    Official Full Name
    spectrin repeat containing nuclear envelope family member 4provided by HGNC
    Primary source
    HGNC:HGNC:26703
    See related
    Ensembl:ENSG00000181392 MIM:615535
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KASH4; Nesp4; DFNB76; C19orf46
    Summary
    This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
    Expression
    Broad expression in prostate (RPKM 6.3), thyroid (RPKM 3.5) and 15 other tissues See more
    Orthologs

    Genomic context

    See SYNE4 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (36003307..36008813, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36494002..36499958, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372383 Neighboring gene Sharpr-MPRA regulatory region 1826 Neighboring gene succinate dehydrogenase complex assembly factor 1 Neighboring gene uncharacterized LOC101927572 Neighboring gene alkB homolog 6 Neighboring gene CAP-Gly domain containing linker protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    establishment of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    establishment of epithelial cell apical/basal polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    integral component of nuclear outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of nuclear outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    meiotic nuclear membrane microtubule tethering complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    nesprin-4
    Names
    KASH domain-containing protein 4
    deafness, autosomal recessive 76
    nuclear envelope spectrin repeat protein 4

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_042831.1 RefSeqGene

      Range
      4981..10487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039876.3NP_001034965.1  nesprin-4 isoform 1

      See identical proteins and their annotated locations for NP_001034965.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA991508, AC002116, AF038458, BC038360, BC052573
      Consensus CDS
      CCDS42553.1
      UniProtKB/Swiss-Prot
      Q8N205
      Related
      ENSP00000316130.3, ENST00000324444.9
      Conserved Domains (1) summary
      pfam10541
      Location:368404
      KASH; Nuclear envelope localization domain
    2. NM_001297735.3NP_001284664.1  nesprin-4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive, alternate in-frame exons in the coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AA991508, AC002116, AK093764, BC038360, BC052573
      Consensus CDS
      CCDS77285.1
      UniProtKB/Swiss-Prot
      Q8N205
      Related
      ENSP00000343152.5, ENST00000340477.9
      Conserved Domains (1) summary
      pfam10541
      Location:255291
      KASH; Nuclear envelope localization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      36003307..36008813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153233.1: Suppressed sequence

      Description
      NM_153233.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Support Center