Aliases for SRGAP2 Gene
External Ids for SRGAP2 Gene
Previous HGNC Symbols for SRGAP2 Gene
Previous GeneCards Identifiers for SRGAP2 Gene
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]
GeneCards Summary for SRGAP2 Gene
SRGAP2 (SLIT-ROBO Rho GTPase Activating Protein 2) is a Protein Coding gene. Diseases associated with SRGAP2 include Infantile Epileptic Encephalopathy and Familial Hypocalciuric Hypercalcemia. Among its related pathways are Signaling by Slit and p75 NTR receptor-mediated signalling. GO annotations related to this gene include protein homodimerization activity and Rac GTPase binding. An important paralog of this gene is SRGAP1.
UniProtKB/Swiss-Prot for SRGAP2 Gene
RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia.