DISEASES

Disease-gene associations mined from literature

Literature associating NR2E3 and blue cone monochromacy

NR2E3 [ENSP00000482504]

Nuclear receptor subfamily 2, group E, member 3; 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; Nuclear hormone receptors

Synonyms:  NR2E3,  NR2E3p,  hNR2E3,  F1D8Q9,  PNR ...

Linkouts:  STRING  Pharos  UniProt