RORB Gene: Function, Expression, and Disease Associations

RORB encodes a member of the NR1 subfamily of nuclear hormone receptors, the retinoic acid receptor-related orphan receptor beta. This protein functions as a ligand-dependent transcription factor, binding as a monomer to ROR response elements (ROREs) in target gene promoters. RORB is critical for circadian rhythm regulation, neurodevelopment, and sensory processing. It is expressed in the brain, retina, and pineal gland. Dysregulation of RORB is implicated in epilepsy, intellectual disability, and certain cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Circadian rhythm (KEGG hsa04710)

• ROR/RXR activation of gene expression (Reactome R-HSA-1368082)

• Retinoic acid receptor signaling (Reactome R-HSA-9006931)

RORB is a 459-amino-acid nuclear receptor with an N-terminal DNA-binding domain containing two zinc fingers, a hinge region, and a C-terminal ligand-binding domain. It binds as a monomer to ROREs (AGGTCA consensus with a 5' A/T-rich flank) to regulate transcription of clock genes (e.g., BMAL1, CLOCK) and neurodevelopmental genes. The protein is highly conserved in vertebrates and is essential for proper circadian behavior and sensory neuron function.