RHOBTB2

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

Full Name

Rho-related BTB domain containing 2

Biological Process

Biological Process actin filament organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cortical cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process engulfment of apoptotic cellManual Assertion Based On ExperimentIBA:GO_Central
Biological Process establishment or maintenance of cell polarityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of cell shapeManual Assertion Based On ExperimentIBA:GO_Central
Biological Process small GTPase mediated signal transductionIEA:InterPro

Cellular Location

cell cortex
cell projection
cytoplasmic vesicle
cytoskeleton
endosome membrane
plasma membrane

Involvement in disease

Developmental and epileptic encephalopathy 64 (DEE64):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment.