PDE6G

phosphodiesterase 6G

Ensembl:
ENSG00000185527
UniProt:
P18545
OMIM:
180073
Synonyms:
PDEG, RP57

Cilia effects upon perturbation of PDE6G

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.62) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane

Function

Localised to rod outer segment by ARL13B (30573647). Encodes for the inhibitory gamma subunit of rod photoreceptor cyclic GMP- phosphodiesterase. Mutations are associated with retinitis pigmentosa (20655036).

Model organism evidence

Mus musculus (1 reference)

In the absence of ARL13B, photoreceptors failed to develop outer segment (OS) membranous discs and axonemes, resulting in loss of function and rapid degeneration.

PMIDs: 30573647