Nuclear Receptor Subfamily 2, Group E, Member 3

Alternative Names

  • NR2E3
  • Photoreceptor-Specific Nuclear Receptor
  • PNR
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OMIM Number

604485

NCBI Gene ID

10002

Uniprot ID

Q9Y5X4

Length

26,029 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Photoreceptor-specific nuclear receptor

Molecular Mass

44692 Da

Amino Acid Count

410

Genomic Location

chr15:71,810,553-71,818,252

Gene Map Locus
15q23

Description

The NR2E3 gene encodes a retinal nuclear receptor that belongs to a large family of nuclear receptor transcription factors involved in signaling pathways for photoreceptors. NR2E3 localization is limited to the outer nuclear layer of the human retina, and it is involved in retinal cell fate determination. NR2E3 behaves intracellularly as a ligand-dependent transcription factor with discrete domains that function in DNA and ligand binding. The NR2E3 gene is 410 amino acids long and has two alternatively spliced isoforms.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014249.4:c.119-2A>CPalestine; United Arab...NC_000015.10:g.71811481A>CLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicEnhanced S-Cone SyndromeNG_009113.2:g.5927A>C; NM_014249.4:c.119-2A>C; NP_055064.1:p.?2723341191059
NM_014249.4:c.932G>AMorocco; Palestine; Sa...NC_000015.10:g.71813573G>ALikely Pathogenic, PathogenicLikely Pathogenic, PathogenicEnhanced S-Cone Syndrome; Retinitis Pigmentosa 37NG_009113.2:g.8019G>A; NM_014249.4:c.932G>A; NP_055064.1:p.Arg311Gln289378735532
NM_016346.4:c.131C>ASaudi ArabiaNC_000015.10:g.71811495C>APathogenicPathogenicNG_009113.2:g.5941C>A; NM_016346.4:c.131C>T; NP_057430.1:p.Ser44Ter2020984811456422
NM_016346.4:c.931C>TSaudi Arabiachr15:71813572PathogenicPathogenicEnhanced S-Cone SyndromeNG_009113.2:g.8018C>T; NM_016346.4:c.931C>T; NP_057430.1:p.Arg311Trp767442358422071
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