Format

Send to:

Choose Destination

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

Gene ID: 163183, updated on 13-Feb-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 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (36003299..36008793, 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 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
    5001..10495
    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, ENST00000324444.8
    Conserved Domains (1) summary
    pfam10541
    Location:368404
    KASH; Nuclear envelope localization domain
  2. NM_001297735.2NP_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, 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.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    36003299..36008793 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