SYNE2

spectrin repeat containing nuclear envelope protein 2

Ensembl:
ENSG00000054654
UniProt:
Q8WXH0
OMIM:
608442
Synonyms:
DKFZP434H2235, KIAA1011, NESP2, NESPRIN-2, NUA

Cilia effects upon perturbation of SYNE2

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased mean corpuscular volume, increased lean body mass, increased grip strength, abnormal locomotor behavior, decreased total body fat amount

Subcellular localization

basal body, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Also known as Nespirin2. Colocalises with meckelin at filopodia prior to the establishment of cell polarity and ciliogenesis. Mediates centrosome migration and determi tionof centrosome/basal body positioning during early cell polarization, an essential step for ciliogenesis. It may form a linking network between the centrosome and the actin cytoskeleton (19596800). Role in nuclear migration and positioning during reti l development. Interaction partner of Pcnt in photoreceptors. Pcnt鈥揝yne-2 complex is important for ciliogenesis and outer segment formation during reti l development and for the attachment of the centrosome to the nucleus in cycling cells (30054381).