PDE6D

phosphodiesterase 6D

Ensembl:
ENSG00000156973
UniProt:
O43924
OMIM:
602676
Synonyms:
JBTS22

Cilia effects upon perturbation of PDE6D

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.71) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome with orofaciodigital defect

Ciliopathy associations

  • Joubert Syndrome

Subcellular localization

cilia, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Ciliary membrane

Function

Interacts with ARL13B, INPP5E and CEP164 in a functio l network involved in nephronophthisis and Joubert syndrome. Required for ciliary targeting of full-length prenylated INPP5E (23150559). Joubert Syndrome disease gene (24166846, 32055034).

Model organism evidence

Mus musculus (1 reference)

Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice.

PMIDs: 36672247