CNTNAP2
Description
The CNTNAP2 (contactin associated protein 2) is a protein-coding gene located on chromosome 7.
Contactin-associated protein-like 2 (CNTNAP2) is a protein encoded by the CNTNAP2 gene in humans. It is the longest gene in the human genome and belongs to the neurexin family, which functions as cell adhesion molecules and receptors in the vertebrate nervous system. CNTNAP2 contains various domains, including epidermal growth factor repeats, laminin G domains, F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains, and a putative PDZ binding site. It is localized at the juxtaparanodes of myelinated axons and associated with potassium channels, suggesting a role in the local differentiation of the axon into distinct functional subdomains. The gene spans nearly 1.6% of chromosome 7 and is one of the largest in the human genome. It is a candidate gene for the DFNB13 form of nonsyndromic deafness. CNTNAP2 has been linked to autism spectrum disorder but accounts for a small percentage of cases. It may also be related to specific language impairment.
CNTNAP2 is also known as AUTS15, CASPR2, CDFE, NRXN4, PTHSL1.
