Aliases for PLEKHG2 Gene
External Ids for PLEKHG2 Gene
Previous GeneCards Identifiers for PLEKHG2 Gene
The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
GeneCards Summary for PLEKHG2 Gene
PLEKHG2 (Pleckstrin Homology And RhoGEF Domain Containing G2) is a Protein Coding gene. Diseases associated with PLEKHG2 include Leukodystrophy And Acquired Microcephaly With Or Without Dystonia and Spondylocostal Dysostosis 1, Autosomal Recessive. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.
UniProtKB/Swiss-Prot Summary for PLEKHG2 Gene
May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).