SYNE4, spectrin repeat containing nuclear envelope family member 4

SYNE4, spectrin repeat containing nuclear envelope family member 4

• 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]

• Gene Synonyms (nesprin-4, KASH domain-containing protein 4, deafness, autosomal recessive 76, nuclear envelope spectrin repeat protein 4, C19orf46, DFNB76, KASH4, Nesp4,)
• NCBI Gene ID: 163183
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8N205
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

spectrin repeat containing nuclear envelope family member 4 interacts with:

• BRICHOS domain containing 5
  defensin beta 121
  family with sequence similarity 241 member B
  LEM domain nuclear envelope protein 2
  occludin
  phospholipid phosphatase 6
  transmembrane protein 192

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.