CELSR2

cadherin EGF LAG seven-pass G-type receptor 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000143126
UniProt:
Q9HCU4
OMIM:
604265
Synonyms:
ADGRC2, CDHF10, EGFL2, FLAMINGO1, KIAA0279, MEGF3

Cilia effects upon perturbation of CELSR2

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.30) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Joubert Syndrome

References: PMID:28052552

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:27894351, PMID:29420175, PMID:25024228, PMID:20473291

Functional category

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

Function

Has been shown to be required for ciliogenesis ( 27894351). Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus ( 29420175), Whereas i ctivation of Celsr2, Celsr3, Fzd3, and Vangl2 perturbs the organization of ependymal multicilia at the single-cell level ( 25024228). Compared to wild–type mice, the number of cilia and ciliary tufts was clearly reduced in Celsr2−/− mice (20473291).