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Gene

NR2E3

nuclear receptor subfamily 2 group E member 3

Summary

Cytogenetic location
15q23
Coordinates
Chromosome 15: 71,810,554–71,818,253 (GRCh38)
Exons
8 exons across 7.7 kb
Protein
410 amino acids
Also known as
PNR, rd7, RP37
MANE Select transcript
ENST00000617575.5NM_014249.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Vitreoretinopathy

    • Vitreoretinal Degeneration
      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 3 GenCC submitters rate it definitive or strong

How NR2E3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where NR2E3 sits. NR2E3 and 9 genes near it on chromosome 15, from 71,314,404 to 72,314,403.Chromosome 1515q23p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.371.4 Mb71.6 Mb71.8 Mb72 Mb72.2 MbTHSD4: 71,096,952–71,783,383, forward strandTHSD4NR2E3: 71,810,554–71,818,253, forward strandNR2E3MYO9A: 71,822,291–72,118,577, reverse strandMYO9ASENP8: 72,114,258–72,143,692, forward strandSENP8GRAMD2A: 72,159,806–72,197,830, reverse strandGRAMD2APKM: 72,199,024–72,231,819, reverse strandPKMPARP6: 72,241,176–72,272,999, reverse strandPARP6: 72,266,746–72,319,946, reverse strandCELF6: 72,284,727–72,320,622, reverse strandCELF6: 72,284,727–72,375,981, reverse strandDiagram of NR2E3: 8 exons on the forward strand of chromosome 15Exon 1: 3 known disease-causing sitesExon 2: 19 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 4: 15 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 1: 71,810,554–71,810,861, 308 basesExon 2: 71,811,483–71,811,609, 127 basesExon 3: 71,811,766–71,811,869, 104 basesExon 4: 71,811,955–71,812,176, 222 basesExon 5: 71,812,336–71,812,511, 176 basesExon 6: 71,813,389–71,813,635, 247 basesExon 7: 71,814,012–71,814,117, 106 basesExon 8: 71,817,552–71,818,253, 702 bases123456785′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2 kb of the gene's 7.7 kb; 1,233 of those bases code for the protein.

How a genome test reads NR2E3

104

positions in NR2E3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 7.7 kb of NR2E3, introns included, not only the 2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NR2E3 gene: nuclear receptor subfamily 2 group E member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/nr2e3

Vancouver

Dante Labs. NR2E3 gene: nuclear receptor subfamily 2 group E member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nr2e3

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