WDR47

Cilia effects upon perturbation of WDR47

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=3.80) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased grip strength, increased circulating alkaline phosphatase level, decreased circulating ldl cholesterol level, absent pin reflex, increased blood uric acid level, hyperactivity, limb grasping, decreased hemoglobin content, decreased body weight, decreased mean corpuscular hemoglobin, increased circulating sodium level, abnormal skin morphology, process of degenerative change, abnormal skin pigmentation

Human ciliopathy phenotype:

Bi-allelic variants cause complex neurodevelopmental syndrome with corpus callosum agenesis, microcephaly, enlarged ventricles. Heterozygous variants associated with cardiovascular laterality defects.

Ciliopathy associations

• Neurodevelopmental syndrome with laterality defects

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion

Function

Wdr47, Camsaps, and Katanin function together for the generation of non-centrosomal microtubule arrays in polarized subcellular compartments(34608154).

Model organism evidence