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

Mouse ciliopathy phenotype:

male infertility

Human ciliopathy phenotype:

intellectual developmental disorder and retinitis pigmentosa

Subcellular localization

basal body, nucleus

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 reti , SCAPER appears to be important for photoreceptor function and/or mainte nce rather than for development (28794130).

Model organism evidence