PPP2R3C

protein phosphatase 2 regulatory subunit B''gamma

Ensembl:
ENSG00000092020
UniProt:
Q969Q6
OMIM:
615902
Synonyms:
C14ORF10, FLJ20644, G4-1, G5PR

Cilia effects upon perturbation of PPP2R3C

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.13) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.72) PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis
Human ciliopathy phenotype:
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy

Ciliopathy associations

  • Gonadal Dysgenesis

Subcellular localization

centrosome, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology

Function

PP2R3C localized at cilia