WDR62

Cilia effects upon perturbation of WDR62

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

enlarged lymph nodes, aspermia, hypoplasia, small semil vesicle, developmental dysplasia, decreased prepulse inhibition, germ cell defect, increased circulating sodium level, spermatogenesis defect

Mouse ciliopathy phenotype:

male infertility, small testis, microphthalmia, small kidney

Subcellular localization

basal body, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Neurogenesis & migration

Function

Truncating, frameshift or missense mutations cause primary autosomal recessive microcephaly type 2 (OMIM:613583). A WDR62- CEP170-KIF2A pathway promotes cilium disassembly in neural progenitors (31197141). WDR62 ablation leads to retarded cilium disassembly, long cilium, and delayed cell cycle progression leading to decreased proliferation and premature differentiation of neural progenitor cells (31197141). Localises to mitotic spindle poles with paralog MAPKBP1 (28089251). Localises to the basal body. MIssense mutants localise to basal body but fail to recruit CPAP and IFT88 (31816041)

Model organism evidence