NR2E3, Official Symbol NR2E3provided by HGNC Official Full Name nuclear receptor subfamily 2 group E member 3provided by HGNC Primary source HGNC:HGNC:7974 See related Ensembl:ENSG00000278570 MIM:604485; AllianceGenome:HGNC:7974 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PNR; RNR; rd7; ESCS; RP37 Summary This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all