Aliases for MCF2L Gene
External Ids for MCF2L Gene
Previous GeneCards Identifiers for MCF2L Gene
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
GeneCards Summary for MCF2L Gene
MCF2L (MCF.2 Cell Line Derived Transforming Sequence Like) is a Protein Coding gene. Diseases associated with MCF2L include congenital disorder of glycosylation, type ir and atypical autism. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity and 1-phosphatidylinositol binding. An important paralog of this gene is ARHGEF40.
UniProtKB/Swiss-Prot for MCF2L Gene
Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the brain. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42.