Cntnap2

Enables PDZ domain binding activity. Involved in several processes, including chemical synaptic transmission; nervous system development; and synapse organization. Acts upstream of or within glutamatergic neuron differentiation and neuron projection development. Located in juxtaparanode region of axon and membrane. Part of voltage-gated potassium channel complex. Is active in several cellular components, including axon initial segment; cerebellar granule cell to Purkinje cell synapse; and presynaptic active zone membrane. Is expressed in central nervous system; neural retina; and sciatic nerve. Used to study autism spectrum disorder and cortical dysplasia-focal epilepsy syndrome. Human ortholog(s) of this gene implicated in several diseases, including autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; major depressive disorder; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2). [provided by Alliance of Genome Resources, Apr 2025]

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cntnap2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.

Describes the biological processes, cellular components, and molecular functions associated with the mouse Cntnap2 gene, providing context for its role in the cell.