photoreceptor-specific nuclear receptor (retina-specific nuclear receptor, nuclear receptor subfamily 2 group E member 3, NR2E3, PNR, RNR)

Function

• transcription factor
• regulation of signaling intrinsic to the photoreceptor cell

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

• eye specific
• expressed in outer nuclear layer of adult neurosensory retina, where nuclei of cone & rod photoreceptors are found

Pathology

• defects in NR2E3 are a cause of
  • enhanced S cone syndrome
  • retinitis pigmentosa type 37

More general terms

• orphan receptor
• nuclear hormone receptor family
• zinc finger protein
• DNA-binding protein

Additional terms

• enhanced S cone syndrome (ESCS); Goldmann-Favre syndrome; retinoschisis with early hemeralopia

Database

• OMIM: https://mirror.omim.org/entry/268100
• OMIM: https://mirror.omim.org/entry/604485
• UniProt: http://www.uniprot.org/uniprot/Q9Y5X4.html