NR2E3

nuclear receptor subfamily 2 group E member 3

Tier: Cilia-Associated Genes

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

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

References: PMID:17564971, PMID:18294254, PMID:21730849, PMID:11853768

Subcellular localization

nucleus

Functional category

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

Function

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