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FLASH GENE
Symbol RHOBTB2 contributors: mct/npt/pgu - updated : 13-02-2018
HGNC name Rho-related BTB domain containing 2
HGNC id 18756
Corresponding disease
EIEE64 epileptic encephalopathy, early infantile 64
Location 8p21.3      Physical location : 22.844.929 - 22.877.710
Synonym name
  • weakly related to RHOA
  • deleted in breast cancer 2
  • Synonym symbol(s) DBC2, KIAA0717, p83
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D
    STRUCTURE 32.78 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4957 - 734 - 2008 18039672
    12 - 5261 - 749 - 2008 18039672
    10 - 5449 - 727 - 2008 18039672
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Nervousbrain     Homo sapiens
    Reproductivefemale systembreast   
     male systemprostate   
    Respiratorylung    
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two BTB-POZ domains
  • conserved Rho GTPase domain
  • one RAS domain
  • two putative protein interacting domains
  • conjugated LipoP
    HOMOLOGY
    interspecies homolog to murine Rhobtb2
    intraspecies homolog to RHOA,weakly
    homolog to RAS
    Homologene
    FAMILY
  • small GTPase superfamily
  • RHOBTB (Bric-a-brac, Tramtrack, Broad-complex) subfamily of Rho GTPases
  • CATEGORY tumor suppressor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text present in vesicular structures
    basic FUNCTION
  • may be involved in protein transport, small GTPase mediated signal transduction
  • significantly influencing cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways
  • playing a physiological role in mitosis and apoptosis by recruiting regulatory proteins to the Cul3 complex to be targeted for degradation
  • tumor suppressors that might function as adaptors of CUL3-dependent ubiquitin ligase complexes
  • play a part in the carcinogenic process through a mechanism that involves the decreased or abolished expression of the corresponding genes, or more rarely, mutations that result in impaired functioning of the protein, presumably leading to the accumulation of RhoBTB substrates and alterations of the cellular homeostasis
  • important tumor suppressor gene related with breast cancer and may play antitumor roles by inhibiting proliferation, preventing colony formation and promoting the apoptosis of tumor cells
  • RHOBTB2 protein participated in various cellular activities and influenced pathways responsible for cell cycle and apoptosis
  • similar to other atypical Rho GTPases, RHOBTB2 was found to have retained the capacity to bind GTP, modulated by the HSP90AA1 ATPase cycle
  • functions as a multifunctional tumor suppressor in thyroid cancer cells via mitochondrial apoptotic pathway
  • suppresses tumorigenesis in breast cancer by ubiquitinating MSI2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • RHOBTB2 and RHOBTB3 are capable of homo and heterodimerizing through the BTB domain region
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • novel direct target of E2F1 with roles in cell cycle and apoptosis
  • interact with CUL3 (interaction requires the N-terminal region of CUL3 and the first BTB domain of RhoBTB)
  • CXCL14 is a target of RHOBTB2 and support downregulation of CXCL14 as a functional outcome of RHOBTB2 loss in cancer
  • is a substrate-specific adaptor protein for a novel class of Cullin-3 (CUL3)-based E3 ubiquitin ligases
  • MSI2 is a novel ubiquitination target protein of RHOBTB2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE64
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    tumoral   deletion    
    deleted or silenced in a large percentage of breast and lung cancers
    tumoral     --other  
    aberrant methylation of RHOBTB2 may be responsible for the suppression of RHOBTB2 mRNA expression in breast cancer
    tumoral     --over  
    results in significant G1 phase arrest and apoptosis in human osteosarcoma (HOS) cell
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • crucial role of its Drosophila ortholog, RhoBTB, in seizure susceptibility, neurological function, and dendrite development