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RHOBTB2
Identifiers
Aliases	RHOBTB2, DBC2, Rho related BTB domain containing 2, EIEE64, p83, DEE64
External IDs	OMIM: 607352; MGI: 2180557; HomoloGene: 22873; GeneCards: RHOBTB2; OMA:RHOBTB2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8p21.3 Start 22,987,417 bp End 23,020,509 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 D2 Start 70,022,439 bp End 70,043,085 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in upper lobe of left lung right frontal lobe prefrontal cortex caudate nucleus putamen dorsolateral prefrontal cortex right lung Brodmann area 9 cingulate gyrus anterior cingulate cortex Top expressed in retinal pigment epithelium superior frontal gyrus olfactory tubercle primary visual cortex primary motor cortex dentate gyrus of hippocampal formation granule cell piriform cortex lens superior colliculus otic vesicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity protein kinase binding Cellular component cytosol plasma membrane intracellular anatomical structure cytoplasm cytoskeleton cell projection Biological process regulation of small GTPase mediated signal transduction small GTPase mediated signal transduction cell morphogenesis actin filament organization Rho protein signal transduction cell migration actin cytoskeleton organization positive regulation of actin filament polymerization actin cytoskeleton reorganization engulfment of apoptotic cell Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23221 246710 Ensembl ENSG00000008853 ENSMUSG00000022075 UniProt Q9BYZ6 Q91V93 RefSeq (mRNA) NM_001160036 NM_001160037 NM_015178 NM_001374791 NM_153514 RefSeq (protein) NP_001153508 NP_001153509 NP_055993 NP_001361720 NP_705734 Location (UCSC) Chr 8: 22.99 – 23.02 Mb Chr 14: 70.02 – 70.04 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

RHOBTB2 is a member of the evolutionarily-conserved RhoBTB subfamily of Rho GTPases. For background information on RhoBTBs, see RHOBTB1 (MIM 607351).

Clinical significance

Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders. 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000008853 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000022075 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Rivero F, Dislich H, Glockner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins". Nucleic Acids Res. 29 (5): 1068–79. doi:10.1093/nar/29.5.1068. PMC 29714. PMID 11222756.
6. ^ "Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2".
7. Belal H, Nakashima M, Matsumoto H, et al. (2018). "De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy". Hum Mutat. 39 (8): 1070–75. doi:10.1002/humu.23550. PMID 29768694.
8. Zagaglia, Sara; Steel, Dora; Krithika, S; Hernandez-Hernandez, Laura; Custodio, Helena Martins; et al. (2021-01-27). "RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood". Neurology. 96 (11): e1539 – e1550. doi:10.1212/WNL.0000000000011543. ISSN 0028-3878. PMC 8032376. PMID 33504645.

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "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. doi:10.1093/dnares/5.5.277. PMID 9872452.
• Hamaguchi M, Meth JL, von Klitzing C, et al. (2002). "DBC2, a candidate for a tumor suppressor gene involved in breast cancer". Proc. Natl. Acad. Sci. U.S.A. 99 (21): 13647–52. Bibcode:2002PNAS...9913647H. doi:10.1073/pnas.212516099. PMC 129730. PMID 12370419.
• Ramos S, Khademi F, Somesh BP, Rivero F (2003). "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse". Gene. 298 (2): 147–57. doi:10.1016/S0378-1119(02)00980-0. PMID 12426103.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Siripurapu V, Meth J, Kobayashi N, Hamaguchi M (2005). "DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways". J. Mol. Biol. 346 (1): 83–9. doi:10.1016/j.jmb.2004.11.043. PMID 15663929.
• Chang FK, Sato N, Kobayashi-Simorowski N, et al. (2007). "DBC2 is essential for transporting vesicular stomatitis virus glycoprotein". J. Mol. Biol. 364 (3): 302–8. doi:10.1016/j.jmb.2006.09.026. PMC 1713265. PMID 17023000.
• Yoshihara T, Collado D, Hamaguchi M (2007). "Cyclin D1 down-regulation is essential for DBC2's tumor suppressor function". Biochem. Biophys. Res. Commun. 358 (4): 1076–9. doi:10.1016/j.bbrc.2007.05.037. PMC 1934618. PMID 17517369.
• Collado D, Yoshihara T, Hamaguchi M (2007). "DBC2 resistance is achieved by enhancing 26S proteasome-mediated protein degradation". Biochem. Biophys. Res. Commun. 360 (3): 600–3. doi:10.1016/j.bbrc.2007.06.127. PMC 1986727. PMID 17617377.
• Ohadi M, Totonchi M, Maguire P, et al. (2007). "Mutation analysis of the DBC2 gene in sporadic and familial breast cancer". Acta Oncologica. 46 (6): 770–2. doi:10.1080/02841860601047752. PMID 17653899. S2CID 33646131.

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