RORB

Chr 9

RAR related orphan receptor B

Also known as: EIG15, NR1F2, ROR-BETA, RORbeta, RZR-BETA, RZRB, bA133M9.1

NCBI Gene: 6096 ENSG00000198963 UniProt: Q92753

RORB encodes a nuclear receptor that binds DNA to regulate gene transcription, particularly controlling photoreceptor development, circadian rhythm regulation, and neocortical neuron patterning. Mutations cause idiopathic generalized epilepsy with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.11), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, idiopathic generalized 15

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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