NAV3 Gene: Neuron Navigator 3 - Function, Mutations, and Disease Associations

NAV3 (Neuron Navigator 3) encodes a member of the neuron navigator family, which are microtubule-associated proteins involved in neuronal development, axon guidance, and cell migration. The protein contains a calponin homology domain and a AAA ATPase domain, and is implicated in cytoskeletal dynamics. NAV3 is expressed predominantly in the nervous system and has been associated with neurodevelopmental disorders, including autism spectrum disorder and intellectual disability, as well as various cancers, particularly colorectal and breast cancer, where it may act as a tumor suppressor or oncogene depending on context.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Microtubule cytoskeleton organization

• Axon guidance

• Neuronal migration

• Cell cycle (via interaction with mitotic spindle)

NAV3 is a 2,198-amino acid protein (UniProt Q8IV90) with a calponin homology domain at the N-terminus and a AAA ATPase domain. It binds microtubules and actin filaments, regulating cytoskeletal dynamics essential for neuronal migration, axon guidance, and cell division. The protein is predominantly cytoplasmic and enriched in growth cones. Alternative splicing generates multiple isoforms. NAV3 interacts with MAP1B and other microtubule-associated proteins. In cancer, altered expression affects cell motility and invasion.