CNTNAP2

Contactin-associated protein-like 2 is a is_associated_with::protein that in humans is encoded by the CNTNAP2 is_associated_with::gene.

This gene encodes a member of the is_associated_with::neurexin family which functions in the vertebrate nervous system as is_associated_with::cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains is_associated_with::epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin is_associated_with::N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with is_associated_with::potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the is_associated_with::human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.

Clinical significance
CNTNAP2 has been associated with is_associated_with::autism spectrum disorder but accounts for very few cases.

CNTNAP2 may also be related to a disorder called is_associated_with::specific language impairment.

Interactions
CNTNAP2 has been shown to interact with is_associated_with::CNTN2.