CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
- Ensembl:
- ENSG00000008300
- UniProt:
- Q9NYQ7
- OMIM:
- 604264
- Synonyms:
- ADGRC3, CDHF11, EGFL1, FMI1, HFMI1
Cilia effects upon perturbation of CELSR3
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.78) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Neurogenesis & migration
- Signaling (Hedgehog, GPCRs, ion channels)
- Axon guidance & growth
Function
Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus ( 29420175), controls the function of ependymal cilia ( 29327175), Whereas i ctivation of Celsr2, Celsr3, Fzd3, and Vangl2 perturbs the organization of ependymal multicilia at the single-cell level ( 25024228).
Model organism evidence
Centrioles play critical roles in organizing the assembly of the mitotic spindle and templating the formation of primary cilia.
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging.
During the past decade, evidence has accumulated for a key role of CELSR1 in epithelial planar cell polarity (PCP), and for CELSR2 and CELSR3 in ciliogenesis and neural development, especially neuron migration and axon guidance in the central, peripheral and enteric nervous systems.
A role for planar cell polarity (PCP) signaling in the orientation of cilia (rotational polarity) and ciliogenesis is established.