Gene: RHOBTB2
Alternate names for this Gene: DBC2|EIEE64|p83
Gene Summary: The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 8
Location in Chromosome : 8p21.3
Description of this Gene: Rho related BTB domain containing 2
Type of Gene: protein-coding
rs1554504656 in
RHOBTB2 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
PMID 29768694 2018 De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
PMID 29276004 2018 Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
rs2241261 in
RHOBTB2 gene and
Renal Cell Carcinoma
PMID 28598434 2017 We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).