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SYNE4 (NM_001297735) - spectrin repeat containing nuclear envelope family member 4

Nesprin-4 Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of SYNE4 protein. View all 2 isoforms
SYNE4: nesprin-4 isoform 2
Description:

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].

Strand
-
Chromosome
19
Protein
291 residues
All mutations
55
PTM sites
2
CDS
36,494,238 - 36,499,583
Transcription
36,494,200 - 36,499,695
12.71% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 163183
UniProt
Ensembl