Aliases for ARHGEF12 Gene
External Ids for ARHGEF12 Gene
Previous GeneCards Identifiers for ARHGEF12 Gene
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for ARHGEF12 Gene
ARHGEF12 (Rho Guanine Nucleotide Exchange Factor (GEF) 12) is a Protein Coding gene. Diseases associated with ARHGEF12 include shwachman-diamond syndrome and waterhouse-friderichsen syndrome. Among its related pathways are Signaling by GPCR and Regulation of actin cytoskeleton. GO annotations related to this gene include GTPase activator activity and G-protein coupled receptor binding. An important paralog of this gene is ARHGEF11.
UniProtKB/Swiss-Prot for ARHGEF12 Gene
May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.