RHOBTB2

Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.^[5][6]

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)[1] Band 8p21.3 Start 22,987,417 bp[1] End 23,020,509 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 D2 Start 70,022,439 bp[2] End 70,043,085 bp[2]
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 [3] [4]
Wikidata
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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.^[7][8] 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.