RHOBTB2

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)
End	23,020,509 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	70,043,085 bp
RNA expression pattern
	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
	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
	23221
	246710
	ENSG00000008853
	ENSMUSG00000022075
	Q9BYZ6
	Q91V93
	NM_001160036; NM_001160037; NM_015178; NM_001374791
	NM_153514
	NP_001153508; NP_001153509; NP_055993; NP_001361720
	NP_705734
	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.⁵⁶

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]⁶

Clinical significance

Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.⁷⁸ 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

GRCh38: Ensembl release 89: ENSG00000008853 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022075 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Rivero F, Dislich H, Glockner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins". Nucleic Acids Research. 29 (5): 1068–1079. doi:10.1093/nar/29.5.1068. PMC 29714. PMID 11222756.
"Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2".
Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, et al. (2018). "De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy". Human Mutation. 39 (8): 1070–1075. doi:10.1002/humu.23550. PMID 29768694.
Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, 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, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, et al. (Oct 1998). "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 Research. 5 (5): 277–286. doi:10.1093/dnares/5.5.277. PMID 9872452.
Hamaguchi M, Meth JL, Klitzing C, Wei W, Esposito D, Rodgers L, et al. (Oct 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. 99 (21): 13647–13652. Bibcode:2002PNAS...9913647H. doi:10.1073/pnas.212516099. PMC 129730. PMID 12370419.
Ramos S, Khademi F, Somesh BP, Rivero F (Oct 2002). "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse". Gene. 298 (2): 147–157. doi:10.1016/S0378-1119(02)00980-0. PMID 12426103.
Siripurapu V, Meth J, Kobayashi N, Hamaguchi M (Feb 2005). "DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways". Journal of Molecular Biology. 346 (1): 83–89. doi:10.1016/j.jmb.2004.11.043. PMID 15663929.
Chang FK, Sato N, Kobayashi-Simorowski N, Yoshihara T, Meth JL, Hamaguchi M (Dec 2006). "DBC2 is essential for transporting vesicular stomatitis virus glycoprotein". Journal of Molecular Biology. 364 (3): 302–308. doi:10.1016/j.jmb.2006.09.026. PMC 1713265. PMID 17023000.
Yoshihara T, Collado D, Hamaguchi M (Jul 2007). "Cyclin D1 down-regulation is essential for DBC2's tumor suppressor function". Biochemical and Biophysical Research Communications. 358 (4): 1076–1079. doi:10.1016/j.bbrc.2007.05.037. PMC 1934618. PMID 17517369.
Collado D, Yoshihara T, Hamaguchi M (Aug 2007). "DBC2 resistance is achieved by enhancing 26S proteasome-mediated protein degradation". Biochemical and Biophysical Research Communications. 360 (3): 600–603. doi:10.1016/j.bbrc.2007.06.127. PMC 1986727. PMID 17617377.
Ohadi M, Totonchi M, Maguire P, Lindblom A, Habibi R, Alavi BA, et al. (2007). "Mutation analysis of the DBC2 gene in sporadic and familial breast cancer". Acta Oncologica. 46 (6). Stockholm, Sweden: 770–772. doi:10.1080/02841860601047752. PMID 17653899. S2CID 33646131.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000008853 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[Rivero_2001-5] Rivero F, Dislich H, Glockner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins". Nucleic Acids Research. 29 (5): 1068–1079. doi:10.1093/nar/29.5.1068. PMC 29714. PMID 11222756.

[entrez-6] "Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2".

[Belal_2018-7] Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, et al. (2018). "De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy". Human Mutation. 39 (8): 1070–1075. doi:10.1002/humu.23550. PMID 29768694.

[8] Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, 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.

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