RAR-Related Orphan Receptor B

Alternative Names

  • RORB
  • RAR-Related Orphan Receptor Beta
  • RZR-Beta
  • RZRB
  • Retinoic Acid-Binding Receptor Beta
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OMIM Number

601972

NCBI Gene ID

6096

Uniprot ID

Q92753

Length

195,843 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Nuclear receptor ROR-beta

Molecular Mass

53220 Da

Amino Acid Count

470

Genomic Location

chr9:74,497,334-74,693,176

Gene Map Locus
9q21.13

Description

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. [From RefSeq

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006914.3:c.196C>TUnited Arab EmiratesNC_000009.12:g.74634733C>TRisk factorLikely PathogenicEpilepsy, Idiopathic Generalized, Susceptibility to, 15NG_046926.2:g.142398C>T; NM_006914.3:c.196C>T; NP_008845.2:p.Arg66Ter1563959514620651
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