PCDH15

Cilia effects upon perturbation of PCDH15

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.49) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

increased bone mineral content

Human ciliopathy phenotype:

hearing loss, autosomal recessive

Ciliopathy associations

• Usher Syndrome

References: PMID:35076463, PMID:35353227, PMID:25404053, PMID:30531642, PMID:37312453, PMID:12786748, PMID:15537665, PMID:11138009

Subcellular localization

cilia

References: PMID:28883094

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Pcdh15a and Itga8 are apically localized in zebrafish hair cells, including kinocilia, where they colocalize at ciliary tips and are required for proper ciliogenesis and kinociliary morphology. Loss of either protein leads to shortened or abnormal kinocilia and mislocalization of both proteins, highlighting their interdependent roles at the ciliary compartment(PMID: 28883094).