Aliases for NR2E1 Gene
External Ids for NR2E1 Gene
Previous HGNC Symbols for NR2E1 Gene
Previous GeneCards Identifiers for NR2E1 Gene
The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
GeneCards Summary for NR2E1 Gene
NR2E1 (Nuclear Receptor Subfamily 2 Group E Member 1) is a Protein Coding gene. Diseases associated with NR2E1 include Enhanced S-Cone Syndrome and Retinitis Pigmentosa 37. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and enzyme binding. An important paralog of this gene is NR2E3.
UniProtKB/Swiss-Prot Summary for NR2E1 Gene
Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells.