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 (FOXP2), 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 mental retardation.[provided by RefSeq, Mar 2010]
GeneCards Summary for CNTNAP2 Gene
CNTNAP2 (Contactin Associated Protein-Like 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Cortical Dysplasia-Focal Epilepsy Syndrome and Autism Susceptibility 15. Among its related pathways are Cell adhesion molecules (CAMs) and Neuroscience. GO annotations related to this gene include enzyme binding. An important paralog of this gene is CNTNAP1.
UniProtKB/Swiss-Prot for CNTNAP2 Gene
May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction (By similarity).