WDPCP

Cilia effects upon perturbation of WDPCP

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.4) PMID:29459680

Phenotypes

Human ciliopathy phenotype:

Bardet-Biedl syndrome 15; Bardet-Biedl syndrome; Meckel syndrome

Ciliopathy associations

• Bardet-Biedl Syndrome

References: PMID:20671153, PMID:32055034, PMID:37239474, PMID:25427950

Subcellular localization

cilia, transition zone

References: PMID:24302887, PMID:32055034, PMID:28001338, PMID:33598458

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

MIM: 613580. Also known as C2ORF86, BBS15 or FRITZ. Regulates planar cell polarity through the modulation of the actin cytoskeleton. Required for recruitment of proteins essential for ciliogenesis to the transition zone, including Sept2, Nphp1, and Mks1, and facilitates the assembly of multiprotein complexes. Mutations have been associated with Bardet-Biedl and and Meckel-Gruber syndromes (24302887, 32055034). Knockdown leads to fewer and shorter cilia and decreses the expression of Septin7 in human sal epithelium, indication that Septin7 could be a target of WDPCP (28001338). Regulates cilia function and beating through activation of MAPK/ERK pathway in the mitochondria of sino sal epithelial cells (33598458).