The nr1d2 gene encodes a nuclear receptor transcription factor. The protein localizes to the nucleus and functions as a transcriptional repressor, forming a core component of the cell-autonomous circad...[+]

The nr1d2 gene encodes a nuclear receptor transcription factor. The protein localizes to the nucleus and functions as a transcriptional repressor, forming a core component of the cell-autonomous circadian clock. It is expressed in various tissues including the brain, retina, and pineal gland, where it rhythmically suppresses the transcription of clock genes like bmal1 and clock through binding to retinoic acid-related orphan receptor response elements (ROREs) in their promoter regions. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD