NR2E3

Chr 15q23

nuclear receptor subfamily 2 group E member 3

Aliases:: PNR, rd7, RP37
MANE:: ENST00000617575.5

OMIM: 604485 ↗NCBI: 10002 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NR2E3 · Q9Y5X4

v62025-08-01

Predicted Aligned Error matrix for NR2E3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.4/ 100

Confident

410 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)21%
Low(50–70)11%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

enhanced S-cone syndrome
0.82
retinitis pigmentosa 37
0.77
retinitis pigmentosa
0.72
Goldmann-Favre syndrome
0.70
Retinal dystrophy
0.57
Joubert syndrome and related disorders
0.52
Cone rod dystrophy
0.44
cone-rod dystrophy
0.43
retinal disorder
0.43
autosomal recessive retinitis pigmentosa
0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Photoreceptor-specific nuclear receptor

Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression