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Contactin associated protein-like 2, also known as CNTNAP2, is a human gene.[1]
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 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[1]CNTNAP2 has recently been associated with autism spectrum disorder.[2][3][4]
Nagase T, Ishikawa K, Suyama M; et al. (1999). "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 Res. 5 (6): 355–64. PMID10048485.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Poliak S, Gollan L, Martinez R; et al. (2000). "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. PMID10624965.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Nakabayashi K, Scherer SW (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; et al. (2002). "Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains". Mol. Cell. Neurosci. 20 (2): 283–97. PMID12093160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMID12421765.CS1 maint: Multiple names: authors list (link)
Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L; et al. (2003). "Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres". Eur. J. Neurosci. 17 (2): 411–6. PMID12542678.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID12690205.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Verkerk AJ, Mathews CA, Joosse M; et al. (2004). "CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder". Genomics. 82 (1): 1–9. PMID12809671.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID12853948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Traka M, Goutebroze L, Denisenko N; et al. (2003). "Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers". J. Cell Biol. 162 (6): 1161–72. doi:10.1083/jcb.200305078. PMID12975355.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Fu GK, Wang JT, Yang J; et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID15203218.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Belloso JM, Bache I, Guitart M; et al. (2007). "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome". Eur. J. Hum. Genet. 15 (6): 711–3. doi:10.1038/sj.ejhg.5201824. PMID17392702.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
