PDE6G

phosphodiesterase 6G

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:30573647

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).

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