SRGAP2 Gene: Function, Expression, and Associated Diseases

SRGAP2 encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The protein contains an N-terminal F-BAR domain, a RhoGAP domain, and a C-terminal SH3 domain. It functions as a GTPase activator for Rho family proteins, regulating actin cytoskeleton dynamics, cell migration, and neuronal development. SRGAP2 is highly expressed in the brain and is involved in cortical neuron migration and dendritic spine maturation. Human-specific duplications of SRGAP2 have been linked to neocortical expansion.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• SLIT-ROBO signaling

• Rho GTPase cycle

• Axon guidance

SRGAP2 is a 1,086-amino acid protein that regulates Rho family GTPases. It contains an F-BAR domain for membrane binding, a RhoGAP domain for GTPase activation, and an SH3 domain for protein-protein interactions. The protein is critical for neuronal development, including cortical neuron migration, dendritic spine maturation, and synaptic plasticity. Human-specific duplications of SRGAP2 have contributed to neocortical evolution.