Gene Protein Transcript Blast result Transcript specific probe-cluster
 
Gene information for CNTNAP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID26047
Official gene symbolCNTNAP2
Full namecontactin associated protein-like 2
Aliases,AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1,
Gene summaryThis 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.
LocationChromosome: 7   Locus: 
Gene position145813453 - 148118090  Map Viewer