Immunogen sequence: CNKDVGAFFE EGMWLRYNFQ APATNARDSS SRVDNAPDQQ NSHPDLAQEE IRFSFSTTKA PCILLYISSF TTDFLAVLVK PTGSLQIRYN LGGTREPYNI DVDHRNMANG QPHSVNITRH EKTIFLKLDH YPSVSYHLPS SS
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Caspr2; Cell recognition molecule Caspr2; Contactin-associated protein-like 2; homolog of Drosophila neurexin IV; KIAA0868; NRXN4
Gene Aliases: AUTS15; CASPR2; CDFE; CNTNAP2; KIAA0868; NRXN4; PTHSL1
UniProt ID: (Human) Q9UHC6
Entrez Gene ID: (Human) 26047
Molecular Function: apolipoprotein cell adhesion molecule enzyme modulator extracellular matrix protein hydrolase membrane-bound signaling molecule metalloprotease oxidase oxidoreductase protease receptor serine protease signaling molecule transfer/carrier protein transporter