Aliases for ARHGEF7 Gene
External Ids for ARHGEF7 Gene
Previous GeneCards Identifiers for ARHGEF7 Gene
This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
GeneCards Summary for ARHGEF7 Gene
ARHGEF7 (Rho Guanine Nucleotide Exchange Factor 7) is a Protein Coding gene. Diseases associated with ARHGEF7 include Borjeson-Forssman-Lehmann Syndrome and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Aquaporin-mediated transport and CREB Pathway. GO annotations related to this gene include protein kinase binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.
UniProtKB/Swiss-Prot for ARHGEF7 Gene
Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.