Affinage

RHOBTB2

Rho-related BTB domain-containing protein 2 · UniProt Q9BYZ6

Length
727 aa
Mass
82.6 kDa
Annotated
2026-06-10
41 papers in source corpus 15 papers cited in narrative 14 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RHOBTB2 (DBC2) is an atypical Rho GTPase that functions principally as a substrate-specific adaptor for Cul3-based E3 ubiquitin ligase complexes, coupling protein ubiquitination to control of cell proliferation, apoptosis, and neuronal excitability (PMID:15107402, PMID:27941885). It binds the Cul3 scaffold through its first BTB domain and is itself a substrate of the Cul3 complex, undergoing proteasomal degradation; a cancer-derived missense mutant that fails to bind Cul3 escapes this regulation and accumulates (PMID:15107402). Assembly of the DBC2–Cul3–COP9 ligase is Hsp90-dependent, and DBC2 associates with Hsp90/Cdc37 while retaining GTP-binding capacity modulated by the Hsp90 ATPase cycle (PMID:24608665). As an adaptor, RHOBTB2 directs polyubiquitination and degradation of substrates including the RNA-binding oncoprotein Musashi-2 (MSI2), and DBC2 and MSI2 levels are inversely correlated in breast cancer (PMID:27941885). Its tumor-suppressor activity—first established by growth inhibition upon re-expression in DBC2-negative breast cancer cells (PMID:12370419)—operates through downregulation of Cyclin D1 (CCND1) as an essential step (PMID:17517369), upregulation of CXCL14 (PMID:18762809) and the metastasis suppressor BRMS1 with decreased phospho-ezrin and phospho-Akt2 to inhibit migration/invasion (PMID:20930524), and E2F1-dependent transcriptional induction during apoptosis, where RHOBTB2 is a direct E2F1 target whose knockdown delays drug-induced apoptosis (PMID:18039672). De novo BTB-domain missense variants impair Cul3-dependent degradation of RHOBTB2, causing protein accumulation with nuclear and mitochondrial localization, downregulation of ion channel genes, and altered neuronal excitability—a phenotype distinct from complete loss of RHOBTB2 and validated by a genetic interaction with the SCN1A ortholog paralytic in Drosophila (PMID:29768694, PMID:39849855, PMID:41478322).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2002 Medium

    Established RHOBTB2/DBC2 as a functional tumor suppressor by showing re-expression inhibits growth in cancer cells that have lost it, while a cancer-derived mutant cannot.

    Evidence Ectopic expression in DBC2-negative breast cancer cells with WT vs somatic mutant comparison and growth assays

    PMID:12370419

    Open questions at the time
    • No molecular mechanism for growth suppression identified
    • Single cell-context, no in vivo validation
  2. 2004 High

    Defined the core biochemical activity: RHOBTB2 binds the Cul3 ligase scaffold via its first BTB domain and is itself a Cul3 ubiquitination substrate, with a cancer mutant escaping this regulation.

    Evidence Co-IP, in vitro and in vivo ubiquitination assays, BTB1 domain mapping, cancer-mutant analysis

    PMID:15107402

    Open questions at the time
    • Did not identify substrates other than RHOBTB2 itself
    • Structural basis of BTB–Cul3 interaction not resolved
  3. 2006 Medium

    Linked RHOBTB2 to microtubule-dependent ER-to-Golgi vesicular transport, broadening its cellular role beyond ubiquitination.

    Evidence siRNA knockdown in 293 cells with VSVG-GFP transport assay and microtubule disruption

    PMID:17023000

    Open questions at the time
    • Molecular mechanism connecting RHOBTB2 to transport unknown
    • No identified transport machinery partner
  4. 2007 Medium

    Connected RHOBTB2 to cell-cycle and apoptotic transcriptional control, showing it is a direct E2F1 target required for timely drug-induced apoptosis.

    Evidence E2F1 overexpression with cycloheximide, E2F1 and RHOBTB2 siRNA, cell-cycle and apoptosis assays

    PMID:18039672

    Open questions at the time
    • Pro-apoptotic effector mechanism downstream of RHOBTB2 not defined
  5. 2007 Medium

    Identified CCND1 downregulation as an essential, non-bypassable step in DBC2-mediated growth suppression.

    Evidence DBC2 expression with CCND1/CCNE1 overexpression rescue and proliferation assays; inducible expression with MG132 in resistant cells

    PMID:17517369 PMID:17617377

    Open questions at the time
    • Whether CCND1 is a direct RHOBTB2 ubiquitination target unresolved
    • Mechanism of resistance via proteasomal DBC2 destruction not fully mapped
  6. 2008 Medium

    Expanded the downstream gene network by identifying CXCL14 as a RHOBTB2-regulated target restored upon re-expression in carcinoma cells.

    Evidence siRNA in primary epithelial cells, microarray, CXCL14 secretion assay, re-expression in HNSCC lines

    PMID:18762809

    Open questions at the time
    • Whether CXCL14 regulation is transcriptional or via ubiquitination is unclear
    • Causal link to tumor suppression not formally tested
  7. 2010 Medium

    Defined an anti-metastatic mechanism in which RHOBTB2 upregulates BRMS1 and dampens ezrin/Akt2 signaling to block migration and invasion.

    Evidence Ectopic RHOBTB2 expression, BRMS1 siRNA rescue, Transwell assays, phospho-protein Western blots

    PMID:20930524

    Open questions at the time
    • Mechanism linking RHOBTB2 to BRMS1 upregulation unknown
    • Single cell-line system
  8. 2014 Medium

    Established that DBC2–Cul3–COP9 ligase assembly is Hsp90/Cdc37-dependent and that DBC2 GTP binding is coupled to the Hsp90 ATPase cycle.

    Evidence Pull-downs, GTP-binding assays, geldanamycin/molybdate modulation, complex co-IP in reticulocyte lysate and MCF7 cells

    PMID:24608665

    Open questions at the time
    • Functional consequence of GTP binding for adaptor activity not defined
    • No GTPase cycling regulators identified
  9. 2016 High

    Defined RHOBTB2 as a substrate-receptor adaptor with a bona fide degradation target, MSI2, linking its ubiquitin-ligase function to suppression of oncogenic signaling.

    Evidence Genome-wide cDNA in vitro ubiquitination screen, DBC2–MSI2 co-IP, overexpression/knockdown, degradation assays, IHC tissue microarray

    PMID:27941885

    Open questions at the time
    • Degron on MSI2 recognized by RHOBTB2 not mapped
    • Other substrates from the screen not characterized
  10. 2025 Medium

    Mechanistically distinguished disease-causing BTB-domain variants—which impair Cul3-mediated self-degradation, accumulate in nucleus/mitochondria, and deregulate ion channels to alter neuronal excitability—from loss of function and GTPase-domain variants.

    Evidence Co-expression of CUL3 with WT vs mutants in Neuro-2a; Drosophila RNA-seq and paralytic genetic interaction; iPSC-neuron patch-clamp; inducible cell model with lysosome inhibitor experiments

    PMID:29768694 PMID:39849855 PMID:41478322

    Open questions at the time
    • Direct ion-channel substrate relationship vs transcriptional effect not separated
    • Mechanism of mitochondrial localization unresolved
  11. 2025 Medium

    Revealed a context-dependent stabilizing role in AML, where RHOBTB2 binds and protects KLHL13 from degradation to drive proliferation via Hippo-YAP1.

    Evidence RHOBTB2–KLHL13 co-IP, siRNA, MG132 rescue, proliferation/migration/apoptosis assays

    PMID:41107424

    Open questions at the time
    • How RHOBTB2 stabilizes rather than degrades KLHL13 is unexplained
    • Reconciliation with tumor-suppressor role in other cancers absent

Open questions

Synthesis pass · forward-looking unresolved questions
  • How RHOBTB2 selects between its degradative adaptor function and protein-stabilizing role, and the rules governing substrate recognition across tissues, remain unresolved.
  • No structural model of substrate engagement
  • Determinants of context-specific tumor-suppressor vs oncogenic behavior unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 2 GO:0140096 catalytic activity, acting on a protein 2 GO:0016874 ligase activity 1
Localization
GO:0005634 nucleus 1 GO:0005739 mitochondrion 1
Pathway
R-HSA-392499 Metabolism of proteins 2 R-HSA-5357801 Programmed Cell Death 2 R-HSA-112316 Neuronal System 1
Complex memberships
Cul3-RHOBTB2 E3 ubiquitin ligaseDBC2–Cul3–COP9 signalosome complex

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 RHOBTB2 (DBC2) expression in breast cancer cells lacking DBC2 transcripts causes growth inhibition, establishing a functional tumor suppressor role; a somatic missense mutant discovered in a breast cancer specimen does not suppress growth, indicating loss-of-function relevance. Ectopic expression in DBC2-negative breast cancer cells, growth inhibition assay; somatic mutant functional comparison Proceedings of the National Academy of Sciences of the United States of America Medium 12370419
2004 RhoBTB2 binds to the ubiquitin ligase scaffold Cul3 via its first BTB domain, and is itself a substrate for ubiquitination and proteasomal degradation by the Cul3-based ubiquitin ligase complex both in vitro and in vivo. A lung cancer-derived missense mutant of RhoBTB2 is unable to bind Cul3 and is not regulated by the ubiquitin/proteasome system, resulting in elevated RhoBTB2 protein levels. Co-immunoprecipitation (binding to Cul3), in vitro and in vivo ubiquitination assays, domain mapping (BTB1 domain), analysis of cancer-derived mutant Genes & development High 15107402
2006 DBC2/RhoBTB2 is required for microtubule-dependent vesicular transport of VSV-G glycoprotein from the ER to the Golgi apparatus; RhoBTB2 mobility itself depends on an intact microtubule network. siRNA knockdown of DBC2 in 293 cells; VSVG-GFP transport assay; microtubule disruption experiments Journal of molecular biology Medium 17023000
2007 RhoBTB2 is a direct transcriptional target of E2F1; RhoBTB2 expression is upregulated by E2F1 overexpression even in the presence of cycloheximide (indicating direct regulation), and RNAi knockdown of E2F1 decreases RhoBTB2 protein. RhoBTB2 expression is elevated during mitosis and during drug-induced apoptosis in an E2F1-dependent manner; siRNA knockdown of RhoBTB2 delays drug-induced apoptosis. E2F1 overexpression with cycloheximide treatment, siRNA knockdown of E2F1 and RhoBTB2, cell cycle analysis, apoptosis assays The Journal of biological chemistry Medium 18039672
2007 DBC2 suppresses breast cancer proliferation through down-regulation of Cyclin D1 (CCND1); constitutive overexpression of CCND1 (or CCNE1 under the CCND1 promoter) prevents the growth-suppressive effect of DBC2, establishing CCND1 down-regulation as an essential step in DBC2's tumor suppressor mechanism. DBC2 expression in breast cancer cells, CCND1 overexpression rescue experiment, cell proliferation assays Biochemical and biophysical research communications Medium 17517369
2007 DBC2-resistant breast cancer cells survive DBC2 induction by rapid degradation of DBC2 protein via the 26S proteasome; proteasome inhibition (MG132) restores DBC2 protein detection in resistant cells. Inducible DBC2 expression system, MG132 proteasome inhibitor treatment, Western blot Biochemical and biophysical research communications Medium 17617377
2008 Loss of RhoBTB2 expression in primary human epithelial cells results in down-regulation of CXCL14; reintroduction of RhoBTB2 into head and neck squamous cell carcinoma lines restores CXCL14 secretion, identifying CXCL14 as a downstream gene target of RhoBTB2. siRNA knockdown in primary human epithelial cells, microarray gene expression analysis, CXCL14 secretion assay, RhoBTB2 re-expression in cancer cell lines Oncogene Medium 18762809
2008 The Cul3 ubiquitin ligase complex ubiquitinates RhoBTB2 directly, leading to its degradation by the proteasome; detailed cell biological and biochemical methods for analyzing this regulation are established. Co-immunoprecipitation, in vitro ubiquitination assay, proteasome inhibitor experiments (methods review paper) Methods in enzymology Medium 18374159
2014 DBC2/RhoBTB2 associates with Hsp90 and its co-chaperone Cdc37 in reticulocyte lysate and MCF7 cells; DBC2 retains the capacity to bind GTP, which is modulated by the Hsp90 ATPase cycle (geldanamycin suppresses GTP binding; molybdate enhances it). Assembly of DBC2–Cul3–COP9 E3 ligase complexes is Hsp90-dependent. Pull-down assays, GTP-binding assays, Hsp90 inhibitor (geldanamycin) and stabilizer (molybdate) treatment, co-immunoprecipitation of DBC2-Cul3-COP9 complex PloS one Medium 24608665
2016 DBC2/RhoBTB2 acts as a substrate-specific adaptor for the Cul3-based E3 ubiquitin ligase; it directly interacts with Musashi-2 (MSI2), promoting MSI2 polyubiquitination and proteasomal degradation in breast cancer cells. DBC2 overexpression suppresses MSI2-associated oncogenic functions and induces apoptosis; DBC2 and MSI2 protein levels are inversely correlated in breast cancer tissues. Genome-wide cDNA library-based in vitro ubiquitination target screen, co-immunoprecipitation (DBC2–MSI2 interaction), overexpression and siRNA knockdown experiments, proteasomal degradation assays, IHC tissue microarray Oncogene High 27941885
2010 Ectopic RhoBTB2 expression inhibits migration and invasion of metastatic breast cancer cells by upregulating the metastasis suppressor BRMS1 and decreasing phosphorylation of ezrin and Akt2; siRNA knockdown of BRMS1 reverses RhoBTB2-mediated inhibition of migration and invasion. Ectopic RhoBTB2 expression, siRNA knockdown of BRMS1, Transwell migration/invasion assays, Western blot for BRMS1, phospho-ezrin, and phospho-Akt2 Cancer biology & therapy Medium 20930524
2018 De novo missense variants in RHOBTB2 BTB domains result in mutant protein accumulation; co-expression of CUL3 with wild-type RHOBTB2 decreased WT protein levels but not those of any of three disease-associated mutants, demonstrating that disease-causing variants impair CUL3-dependent proteasomal degradation of RHOBTB2. Transient expression in Neuro-2a cells, co-expression with CUL3, Western blot quantification of WT vs mutant RHOBTB2 protein levels Human mutation Medium 29768694
2025 BTB-domain variants of RHOBTB2 (R461H, R485C, R489Q) cause increased RHOBTB2 protein accumulation with nuclear and mitochondrial localization, and lead to significantly altered neuronal excitability (measured by patch-clamp) and downregulation of ion channel genes including those related to sodium channels (paralytic/SCN1A ortholog). GTPase-domain variants (D92H, W217C) do not alter protein levels but reduce Na+/K+-ATPase protein via lysosome-dependent degradation. Functional genetic interaction between RhoBTB and paralytic (SCN1A ortholog) was confirmed in Drosophila in vivo. Complete loss of RHOBTB2 does not produce the same neuronal excitability phenotype as BTB-domain variants. Drosophila RNA-seq on fly heads overexpressing RhoBTB, genetic interaction experiments in flies; patch-clamp recordings on iPSC-derived neurons with homozygous frameshifts or patient-specific missense variants; doxycycline-inducible cell model; protein localization analysis; RNA-seq in cell model; lysosome inhibitor experiments Human molecular genetics / Biochimica et biophysica acta. Molecular cell research High 39849855 41478322
2025 In AML cells, RHOBTB2 directly interacts with KLHL13 (validated by co-immunoprecipitation); RHOBTB2 stabilizes KLHL13 protein by inhibiting its proteasomal degradation (MG132 reverses KLHL13 loss upon RHOBTB2 knockdown). RHOBTB2 promotes AML cell proliferation and migration and suppresses apoptosis, acting through KLHL13 and the Hippo-YAP1 pathway. Co-immunoprecipitation (RHOBTB2–KLHL13), siRNA knockdown, MG132 proteasome inhibitor rescue, Western blot, CCK-8 proliferation assay, Transwell assay, Annexin V/PI apoptosis assay Scientific reports Medium 41107424

Source papers

Stage 0 corpus · 41 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proceedings of the National Academy of Sciences of the United States of America 186 12370419
2004 RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase complex. Genes & development 106 15107402
2004 DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways. Journal of molecular biology 67 15663929
2004 Mutation analysis of the 8p candidate tumour suppressor genes DBC2 (RHOBTB2) and LZTS1 in bladder cancer. Cancer letters 65 15922864
2016 DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer. Oncogene 38 27941885
2008 The atypical Rho GTPase RhoBTB2 is required for expression of the chemokine CXCL14 in normal and cancerous epithelial cells. Oncogene 37 18762809
2007 RhoBTB2 (DBC2) is a mitotic E2F1 target gene with a novel role in apoptosis. The Journal of biological chemistry 36 18039672
2018 De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Human mutation 31 29768694
2006 DBC2 is essential for transporting vesicular stomatitis virus glycoprotein. Journal of molecular biology 31 17023000
2007 Cyclin D1 down-regulation is essential for DBC2's tumor suppressor function. Biochemical and biophysical research communications 28 17517369
2021 RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology 27 33504645
2011 RhoBTB2 (DBC2) functions as tumor suppressor via inhibiting proliferation, preventing colony formation and inducing apoptosis in breast cancer cells. Gene 24 21801820
2007 Genetic analysis of the DBC2 gene in gastric cancer. Acta oncologica (Stockholm, Sweden) 23 17906984
2008 DBC2 gene is silenced by promoter methylation in bladder cancer. Urologic oncology 19 18640857
2014 Hsp90-dependent assembly of the DBC2/RhoBTB2-Cullin3 E3-ligase complex. PloS one 18 24608665
2010 A novel tumor suppressor gene RhoBTB2 (DBC2): frequent loss of expression in sporadic breast cancer. Molecular carcinogenesis 18 19937980
2010 Ectopic expression of RhoBTB2 inhibits migration and invasion of human breast cancer cells. Cancer biology & therapy 18 20930524
2021 Novel miR-5088-5p promotes malignancy of breast cancer by inhibiting DBC2. Molecular therapy. Nucleic acids 11 34457998
2015 RhoBTB2 (DBC2) functions as a multifunctional tumor suppressor in thyroid cancer cells via mitochondrial apoptotic pathway. International journal of clinical and experimental medicine 11 26131191
2007 Mutation analysis of the DBC2 gene in sporadic and familial breast cancer. Acta oncologica (Stockholm, Sweden) 11 17653899
2023 Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review. Movement disorders clinical practice 10 37982109
2020 Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation. Neurology. Genetics 10 32337345
2013 Downregulated RhoBTB2 expression contributes to poor outcome in osteosarcoma patients. Cancer biotherapy & radiopharmaceuticals 10 23777252
2007 DBC2 resistance is achieved by enhancing 26S proteasome-mediated protein degradation. Biochemical and biophysical research communications 10 17617377
2004 High expression during neurogenesis but not mammogenesis of a murine homologue of the Deleted in Breast Cancer2/Rhobtb2 tumor suppressor. Gene expression patterns : GEP 10 15567721
2012 Loss of DBC2 expression is an early and progressive event in the development of lung adenocarcinoma. Asian Pacific journal of cancer prevention : APJCP 9 22901165
2012 Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer. Cell journal 9 23626933
2022 Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana. Molecular genetics & genomic medicine 8 35315256
2013 Decreased expression of the DBC2 gene and its clinicopathological significance in breast cancer: correlation with aberrant DNA methylation. Biotechnology letters 8 23546941
2013 RhoBTB2 gene in breast cancer is silenced by promoter methylation. International journal of molecular medicine 8 24356943
2008 [Expressions of Fas, CTLA-4 and RhoBTB2 genes in breast carcinoma and their relationship with clinicopathological factors]. Zhonghua zhong liu za zhi [Chinese journal of oncology] 8 19173804
2021 RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report. Journal of pediatric genetics 5 37090824
2008 Regulation of RhoBTB2 by the Cul3 ubiquitin ligase complex. Methods in enzymology 5 18374159
2025 Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy. Human molecular genetics 3 39849855
2025 RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis. Molecular genetics & genomic medicine 2 39831600
2024 Variants in RHOBTB2 associated with cancer and rare developmental and epileptic encephalopathy. Frontiers in pediatrics 2 39736890
2025 RHOBTB2 enhances cell proliferation of acute myeloid leukemia by modulating Hippo-YAP1 signaling and dependent of KLHL13. Scientific reports 1 41107424
2026 RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3. Diseases (Basel, Switzerland) 0 42187878
2025 Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model. Biochimica et biophysica acta. Molecular cell research 0 41478322
2024 [Neurodevelopmental impact of a mutation in the RHOBTB2 gene]. Revue medicale de Liege 0 39129541
2014 The mutation of DBC2 in breast cancer patients from the Han ethnic group in Eastern China. Hematology/oncology and stem cell therapy 0 24485767

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