PCDH15

protocadherin related 15

Ensembl:
ENSG00000150275
UniProt:
Q96QU1
OMIM:
605514
Synonyms:
CDHR15, DFNB23, USH1F

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

Subcellular localization

cilia

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).

Model organism evidence

Mus musculus (2 references)

We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-lateral links, that stereocilin (STRC) and protein tyrosine phosphatase (PTPRQ) are associated with top and shaft connectors, respectively, and that USH2A an

Knockdown of clarin-1 resulted in inhibition of FM1-43 incorporation, shortening of the kinocilia, and mislocalization of ribeye b clusters.

PMIDs: 30617060, 25365995

Danio rerio (1 reference)

Knockdown of clarin-1 resulted in inhibition of FM1-43 incorporation, shortening of the kinocilia, and mislocalization of ribeye b clusters.

PMIDs: 25365995