RHOBTB2 explained

Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.^[1] ^[2]

RHOBTB2 is a member of the evolutionarily-conserved RhoBTB subfamily of Rho GTPases. For background information on RhoBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM]^[2]

Clinical significance

Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.^[3] ^[4] RHOBTB2-related disorders are autosomal dominant, meaning only one of the two copies of the gene needs to be mutated to cause disease. The mutations usually occur de novo – that is, as a new mutation occurring in the affected individual rather than having been inherited.

Further reading

Nakajima D, Okazaki N, Yamakawa H, etal . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . free .
Nagase T, Ishikawa K, Suyama M, etal . Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. . DNA Res. . 5 . 5 . 277–86 . 1999 . 9872452 . 10.1093/dnares/5.5.277 . free .
Hamaguchi M, Meth JL, von Klitzing C, etal . DBC2, a candidate for a tumor suppressor gene involved in breast cancer. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 21 . 13647–52 . 2002 . 12370419 . 10.1073/pnas.212516099 . 129730 . 2002PNAS...9913647H . free .
Ramos S, Khademi F, Somesh BP, Rivero F . Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse. . Gene . 298 . 2 . 147–57 . 2003 . 12426103 . 10.1016/S0378-1119(02)00980-0 .
Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
Siripurapu V, Meth J, Kobayashi N, Hamaguchi M . DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways. . J. Mol. Biol. . 346 . 1 . 83–9 . 2005 . 15663929 . 10.1016/j.jmb.2004.11.043 .
Chang FK, Sato N, Kobayashi-Simorowski N, etal . DBC2 is essential for transporting vesicular stomatitis virus glycoprotein. . J. Mol. Biol. . 364 . 3 . 302–8 . 2007 . 17023000 . 10.1016/j.jmb.2006.09.026 . 1713265 .
Yoshihara T, Collado D, Hamaguchi M . Cyclin D1 down-regulation is essential for DBC2's tumor suppressor function. . Biochem. Biophys. Res. Commun. . 358 . 4 . 1076–9 . 2007 . 17517369 . 10.1016/j.bbrc.2007.05.037 . 1934618 .
Collado D, Yoshihara T, Hamaguchi M . DBC2 resistance is achieved by enhancing 26S proteasome-mediated protein degradation. . Biochem. Biophys. Res. Commun. . 360 . 3 . 600–3 . 2007 . 17617377 . 10.1016/j.bbrc.2007.06.127 . 1986727 .
Ohadi M, Totonchi M, Maguire P, etal . Mutation analysis of the DBC2 gene in sporadic and familial breast cancer. . Acta Oncologica . 46 . 6 . 770–2 . 2007 . 17653899 . 10.1080/02841860601047752 . 33646131 . free .

Notes and References

Rivero F, Dislich H, Glockner G, Noegel AA . The Dictyostelium discoideum family of Rho-related proteins . Nucleic Acids Res . 29 . 5 . 1068–79 . Mar 2001 . 11222756 . 29714 . 10.1093/nar/29.5.1068 .
Web site: Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2.
Belal H, Nakashima M, Matsumoto H et al . De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy . Hum Mutat . 39 . 8 . 1070–75 . 2018 . 29768694 . 10.1002/humu.23550 . free .
Zagaglia . Sara . Steel . Dora . Krithika . S . Hernandez-Hernandez . Laura . Custodio . Helena Martins . Gorman . Kathleen M . Vezyroglou . Aikaterini . Møller . Rikke S . King FRCPCH . Mary D . Hammer . Trine Bjørg . Spaull . Robert . 5 . 2021-01-27 . RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood . Neurology . 96 . 11 . en . e1539–e1550. 10.1212/WNL.0000000000011543 . 33504645 . 8032376 . 0028-3878.