PDE6A

phosphodiesterase 6A

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000132915
UniProt:
P16499
OMIM:
180071
Synonyms:
PDEA, RP43

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.20) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.52) PMID:41160700

Phenotypes

Mouse phenotype:
abnormal coat/ hair morphology, atrophy, abnormal eye morphology, increased circulating phosphate level
Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 43

Subcellular localization

cilia

References: PMID:29118501

Functional category

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

Function

Also known as RP43. Mutations have been associated with autosomal recessive retinitis pigmentosa (26321862, 29118501), and increase intracellular cGMP triggering cell death most likely through a calcium/sodium imbalance (30998820).