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    RHOBTB2 Rho related BTB domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 23221, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

    Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C.

    08/10/2023
    Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation.

    Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation.
    Jové Blanco A, Lorente Romero J, Barredo Valderrama E, Castro de Castro P.

    01/11/2023
    Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia.

    Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia.
    Liu P, Ma Q, Chen H, Zhang L, Zhang X., Free PMC Article

    07/24/2021
    RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

    RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
    Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA., Free PMC Article

    03/28/2021
    missense variants in the BTB-domain-encoding region of RHOBTB2 as causative for a developmental and epileptic encephalopathy.

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
    Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C., Free PMC Article

    12/22/2018
    these findings provide evidence that DBC2 suppresses tumorigenesis in breast cancer by ubiquitinating MSI2.

    DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer.
    Choi YM, Kim KB, Lee JH, Chun YK, An IS, An S, Bae S., Free PMC Article

    09/16/2017
    Mutation in the promoter and exon 7 of DBC2 gene is not common in the Chinese population and may not contribute to the susceptibility for breast cancer in China

    The mutation of DBC2 in breast cancer patients from the Han ethnic group in Eastern China.
    Fu G, Wang H, Wu H, Wang M.

    01/24/2015
    data suggest a new paradigm for Hsp90-modulated assembly of a Cul3/DBC2 E3 ubiquitin ligase complex that may extend to other E3 ligase complexes.

    Hsp90-dependent assembly of the DBC2/RhoBTB2-Cullin3 E3-ligase complex.
    Manjarrez JR, Sun L, Prince T, Matts RL., Free PMC Article

    01/3/2015
    ). The results demonstrated that aberrant methylation of RhoBTB2 may be responsible for the suppression of RhoBTB2 mRNA expression in breast cancer, a significant event during the genesis of breast cancer that correlated with progesterone receptor status

    RhoBTB2 gene in breast cancer is silenced by promoter methylation.
    Tang W, Wang C, Fu F, Chen Q.

    09/13/2014
    Thus loss of DBC2 expression is caused by abnormal methylation of DBC2 and might have a role in breast cancer development.

    Decreased expression of the DBC2 gene and its clinicopathological significance in breast cancer: correlation with aberrant DNA methylation.
    Han L, Hou L, Song J, Lin D, Wu L, Ge Y, Ma Z.

    02/1/2014
    Loss of DBC2 expression is an early and progressive event in the development of lung adenocarcinoma.

    Loss of DBC2 expression is an early and progressive event in the development of lung adenocarcinoma.
    Dong W, Meng L, Shen HC, Du JJ.

    01/26/2013
    Overexpression of RhoBTB2 in breast tumor cells significantly inhibited the proliferation and colony formation of tumor cells. In addition, RhoBTB2 also elevated the apoptotic ratio and caused typical changes of apoptotic morphology.

    RhoBTB2 (DBC2) functions as tumor suppressor via inhibiting proliferation, preventing colony formation and inducing apoptosis in breast cancer cells.
    Mao H, Zhang L, Yang Y, Sun J, Deng B, Feng J, Shao Q, Feng A, Song B, Qu X.

    10/15/2011
    RhoBTB2 is establishing itself as a tumor suppressor with increasing relevance towards malignancies.

    RhoBTB2 (DBC2) comes of age as a multifunctional tumor suppressor.
    Freeman SN, Cress WD.

    07/2/2011
    Ectopic expression of RhoBTB2 results in decreased phosphorylation of ezrin and Akt2 in both MDA-MB-231 and MDA-MB-435 cells.

    Ectopic expression of RhoBTB2 inhibits migration and invasion of human breast cancer cells.
    Ling LJ, Lu C, Zhou GP, Wang S.

    07/2/2011
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
    Loizidou MA, Cariolou MA, Neuhausen SL, Newbold RF, Bashiardes E, Marcou Y, Michael T, Daniel M, Kakouri E, Papadopoulos P, Malas S, Hadjisavvas A, Kyriacou K.

    09/15/2010
    The expression of Fas, CTLA-4 and RhoBTB2 at the mRNA level is involved in genesis and progression of breast cancer.

    [Expressions of Fas, CTLA-4 and RhoBTB2 genes in breast carcinoma and their relationship with clinicopathological factors].
    Bi Y, Wei L, Mao HT, Zhang L, Zuo WS.

    05/10/2010
    Frequent loss of RhoBTB2 expression is associated with sporadic breast cancer.

    A novel tumor suppressor gene RhoBTB2 (DBC2): frequent loss of expression in sporadic breast cancer.
    Mao H, Qu X, Yang Y, Zuo W, Bi Y, Zhou C, Yin H, Deng B, Sun J, Zhang L.

    03/29/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    New genetic associations detected in a host response study to hepatitis B vaccine.
    Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M.

    Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Hosgood HD 3rd, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M, Lan Q.

    12/2/2009
    CXCL14 is a gene target of RhoBTB2 and supports downregulation of CXCL14 as a functional outcome of RhoBTB2 loss in cancer.

    The atypical Rho GTPase RhoBTB2 is required for expression of the chemokine CXCL14 in normal and cancerous epithelial cells.
    McKinnon CM, Lygoe KA, Skelton L, Mitter R, Mellor H.

    01/21/2010
    aberrant methylation in DBC2 promoter may be responsible for the expression loss of DBC2 expression in bladder cancer and this hypermethylation event could play a crucial role in the early stage of bladder tumorigenesis.

    DBC2 gene is silenced by promoter methylation in bladder cancer.
    Shi Y, Chen JY, Yang J, Li B, Chen ZH, Xiao CG.

    01/21/2010
    Mutations & allelic loss in the DBC2 gene are uncommon in gastric cancers in Korean patients, so it is unlikely to play a major role. 3 new polymorphisms in the coding region were found.

    Genetic analysis of the DBC2 gene in gastric cancer.
    Cho YG, Choi BJ, Kim CJ, Song JH, Zhang C, Nam SW, Lee JY, Park WS.

    01/21/2010
    RhoBTB2 up-regulated during drug-induced apoptosis, with this being primarily dependent on E2F1.

    RhoBTB2 (DBC2) is a mitotic E2F1 target gene with a novel role in apoptosis.
    Freeman SN, Ma Y, Cress WD., Free PMC Article

    01/21/2010
    The researchers isolated three novel mutations in the DBC2 gene in breast cancer families in Iran.

    Mutation analysis of the DBC2 gene in sporadic and familial breast cancer.
    Ohadi M, Totonchi M, Maguire P, Lindblom A, Habibi R, Alavi BA, Keyhani E, Najmabadi H.

    01/21/2010
    These findings indicate that the resistant T-47D cells survive DBC2 induction by rapid destruction of DBC2 through 26S proteasome-mediated protein degradation.

    DBC2 resistance is achieved by enhancing 26S proteasome-mediated protein degradation.
    Collado D, Yoshihara T, Hamaguchi M., Free PMC Article

    01/21/2010
    two networks were found to react substantially to DBC2 expression--one of the networks regulates cell growth through cell-cycle control and apoptosis; the other network is related to cytoskeleton and membrane trafficking

    DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways.
    Siripurapu V, Meth J, Kobayashi N, Hamaguchi M.

    01/21/2010
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