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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
Corresponding disease
PAMD2 pulmonary agenesis, microphthalmia, and diaphragmatic defect 2
Location 3p24.2      Physical location : 25.469.753 - 25.639.420
Synonym name
  • HBV-activated protein
  • nuclear receptor subfamily 1 group B member 2
  • hepatitis B virus activated protein
  • Synonym symbol(s) HAP, HBVI, NR1B2, RRB2, RAR-beta, RAR-epsilon
    DNA
    TYPE functioning gene
    STRUCTURE 169.67 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure hepatitis B virus integretion site
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - - - 2006 17001699
  • truncated isoform lacking the N-terminal domains of beta 2 and beta 4, including the DNA-binding domain
  • able to heterodimerize and interact with transcription cofactors
  • enhances proliferation and retinoid resistance
  • 8 - 3142 - 448 - 2007 17433757
    8 - 2760 37.9 336 - 2007 17433757
  • RARB2
  • frequently inactivated in cancer (Pappas 2008)
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Urinarykidney    
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eye (trabecular meshwork)
    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