SCAPER

Cilia effects upon perturbation of SCAPER

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (2 screens)

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

Phenotypes

Mouse phenotype:

decreased grip strength, decreased blood urea nitrogen level, preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

intellectual developmental disorder and retinitis pigmentosa

Ciliopathy associations

• Bardet-Biedl Syndrome
• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, nucleus, ciliary tip

References: PMID:41005307, PMID:30723319, PMID:28794130

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Cilia length regulation

Function

Varians have been associated with intellectual disability and autosomal recessive RP. Mutations affect cilia length, suggesting a rol for SCAPER in restricting cilia elongation or enhancing cilia resorption (30723319). Although it is ubiquitously expressed in human tissues, deleterious mutations appear to affect only reti and brain. In the retina, SCAPER appears to be important for photoreceptor function and/or maintenance rather than for development (28794130).