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Symbol RARB contributors: mct/npt/pgu - updated : 25-11-2013
HGNC name retinoic acid receptor, beta
HGNC id 9865
corresponding disease(s) PAMD2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
by hypermethylation in patients with familial partial lipodystrophy and LMNA gene mutations (R482L and R471G)
tumoral     --low  
by promoter region methylation is an early event in endometrial carcinogenesis
tumoral   deletion    
or weakly expressed in esophageal cancer by hypermethylation of the promoter
tumoral     --low  
by hypermethylation in non-small cell lung cancer (NSCLC) more frequent in females compared to males
  • to meningomyelocele (MM)
  • Variant & Polymorphism SNP
  • rs6799734, rs12630816, rs17016462 conferred a protective effect for MM susceptibility
  • Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Therapy target
  • AM580 (a RAR-specific agonist might be considered as a potential treatment for endometrial carcinoma
  • potential pharmacological target to the regulation of stem cell function (chondrogenesis can be induced using a synthetic inhibitor of the retinoic acid receptor)