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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
    Physical map
    LOC391518 3 hypothetical gene supported by X74864 FLJ22419 3p24.3 hypothetical protein FLJ22419 LOC389099 3 similar to RIKEN cDNA B830010L13 gene HMG1L5 3p24 high-mobility group (nonhistone chromosomal) protein 1-like 5 LOC391519 3 similar to SALL4B FLJ25157 3p24.2 hypothetical protein FLJ25157 UBE2E1 3p24.1 ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast) KBRAS1 3p24.1 I-kappa-B-interacting Ras-like protein 1 RPL15 3p12-p11.2 ribosomal protein L15 NR1D2 3p24.3-p24.2 nuclear receptor subfamily 1, group D, member 2 LOC391520 3 similar to nucleolar phosphoprotein B23.2 - rat THRB 3p24 thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) LOC285324 3p24.1 similar to Retinoic acid receptor beta (RAR-beta) (RAR-epsilon) (HBV-activated protein) LOC391521 3 similar to Cofilin, non-muscle isoform LOC51036 3p24 retinoic acid receptor-beta associated open reading frame RARB 3p24.3 retinoic acid receptor, beta TOP2B 3p24 topoisomerase (DNA) II beta 180kDa LOC391522 3 similar to Cysteine-rich protein 1 (Cysteine-rich intestinal protein) (CRIP) NGLY1 3p24.1 N-glycanase 1 LOC246135 3p24.1 TBP-associated factor 9-like pseudogene FLJ12409 3p24.1 hypothetical protein FLJ12409 FLJ20604 3p24.1 hypothetical protein FLJ20604 LOC285326 3p24.1 hypothetical protein LOC285326 LOC391523 3 similar to Ribulose-phosphate 3-epimerase (Ribulose-5-phosphate-3-epimerase) (HUSSY-17) VENTX2P4 3p24.1 VENT-like homeobox 2 pseudogene 4 LRP15 3p24 hypothetical protein LRP15 FLJ32685 3p24.1 hypothetical protein FLJ32685 SLC4A7 3p22 solute carrier family 4, sodium bicarbonate cotransporter, member 7 LOC285321 3p23 similar to tropomyosin 4 EOMES 3p21.3-p21.2 eomesodermin homolog (Xenopus laevis) MGC61571 3p23 hypothetical protein MGC61571 AZ2 3p23 5-azacytidine induced gene 2 LOC152098 3p23 hypothetical protein LOC152098 FLJ33651 3p23 hypothetical protein FLJ33651 LOC131572 3p23 similar to MEST LOC389100 3 LOC389100 RBMS3 3p24.3-p23 RNA binding motif, single stranded interacting protein
    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