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 Atypical Autism and Osteoarthritis. Among its related pathways are p75 NTR receptor-mediated signalling and Phospholipase-C Pathway. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity and 1-phosphatidylinositol binding. An important paralog of this gene is MCF2L2.
UniProtKB/Swiss-Prot for MCF2L Gene
Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669).
Isoform 3: Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669).