NR2E3

nuclear receptor subfamily 2 group E member 3

Ensembl:
ENSG00000278570
UniProt:
Q9Y5X4
OMIM:
604485
Synonyms:
PNR, RD7, RP37

Cilia effects upon perturbation of NR2E3

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.21) 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 37; retinitis pigmentosa; Joubert syndrome and related disorders

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene, nucleus

Functional category

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

Function

Mutations in the NR2E3 gene cause Retinitis Pigmentosa (PMID: 17564971, 18294254).