NR2E3, a NR2 Hepatocyte NF4-Like Receptor, has been suggested to affect cone cell proliferation in eye development. It has been shown to have a role in determining photoreceptor phenotype during human retinogenesis. In RD7 mice, a deletion in NR2E3 results in hereditary retinal dysplasia and degeneration. A homozygous missense mutation in NR2E3 has been linked to retinitis pigmentosa in Crypto-Jews of Belmonte. Two alternatively spliced isoforms have been documented. NR2E3 is expressed in the retina. ESTs have been isolated from cancerous human lung, colon, and ovary, and from normal human eye.
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Protein Aliases: MGC138414; MGC138416; Nuclear receptor subfamily 2 group E member 3; nuclear receptor subfamily 2, group E, member 3; Photoreceptor-specific nuclear receptor; Retina-specific nuclear receptor; RP11-295F4.5; taR-5
Gene Aliases: ESCS; NR2E3; PNR; rd7; RNR; RP37
UniProt ID: (Human) Q9Y5X4
Entrez Gene ID: (Human) 10002