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FLASH GENE
Symbol RARB contributors: mct/npt/pgu - updated : 25-11-2013
HGNC name retinoic acid receptor, beta
HGNC id 9865
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one modulating N terminal domain
  • both 'zinc-fingers' of the DNA-binding domain are encoded separately in two exons and the ligand-binding domain is assembled from five exons
  • C terminal steroid binding domain
  • HOMOLOGY
    interspecies homolog to murine Rarb
    Homologene
    FAMILY
  • nuclear hormone receptor family
  • CATEGORY DNA associated , transcription factor , tumor suppressor , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • morphogen controlling cell functions by directly regulating gene expression
  • possible role of the retinol pathway in the development of lipodystrophy phenotypes
  • frequently deleted or epigenetically silenced at early stages in tumor progression and corresponds to a tumor suppressor
  • its activity is essential for proper differentiation of ES cells to pancreatic endocrine cells
  • crucial role of the retinoic acid pathway during eye development and organogenesis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by both all-trans (T-RA) and its 9-cis isomer (9-cis-RA) retinoic acids
    ASSOCIATED DISORDERS
    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
    Susceptibility
  • 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
    Marker
    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)
  • ANIMAL & CELL MODELS