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).