Aliases for CNTNAP2 Gene
External Ids for CNTNAP2 Gene
Previous GeneCards Identifiers for CNTNAP2 Gene
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains 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 N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]
GeneCards Summary for CNTNAP2 Gene
CNTNAP2 (Contactin Associated Protein 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Pitt-Hopkins-Like Syndrome 1 and Autism 15. Among its related pathways are Cell adhesion molecules (CAMs) and Neuroscience. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is CNTNAP5.
UniProtKB/Swiss-Prot Summary for CNTNAP2 Gene
Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.