PDE6D

phosphodiesterase 6D

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:24166846, PMID:30423442

Subcellular localization

cilia, cytosol

References: PMID:24166846, PMID:32055034, PMID:23150559

Functional category

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

Function

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