Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2gene.[1][2][3]
Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome [4]
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 associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the human genome.[5] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[3]
↑Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E (December 1999). "Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels". Neuron. 24 (4): 1037–47. doi:10.1016/S0896-6273(00)81049-1. PMID10624965.
↑Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID10048485.
Nakabayashi K, Scherer SW (April 2001). "The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35". Genomics. 73 (1): 108–12. doi:10.1006/geno.2001.6517. PMID11352571.
Spiegel I, Salomon D, Erne B, Schaeren-Wiemers N, Peles E (June 2002). "Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains". Molecular and Cellular Neurosciences. 20 (2): 283–97. doi:10.1006/mcne.2002.1110. PMID12093160.
Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA (January 2003). "Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres". The European Journal of Neuroscience. 17 (2): 411–6. doi:10.1046/j.1460-9568.2003.02441.x. PMID12542678.
Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA (July 2003). "CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder". Genomics. 82 (1): 1–9. doi:10.1016/S0888-7543(03)00097-1. PMID12809671.
Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z (June 2007). "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome". European Journal of Human Genetics. 15 (6): 711–3. doi:10.1038/sj.ejhg.5201824. PMID17392702.
