CNTNAP2
| View/Edit Human | View/Edit Mouse |
Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.[4][5][6]
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. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[6]
Clinical significance
CNTNAP2 has been associated with autism spectrum disorder but accounts for very few cases.[7][8][9]
CNTNAP2 may also be related to a disorder called specific language impairment.[10]
Interactions
CNTNAP2 has been shown to interact with CNTN2.[11]
References
- ↑ "Diseases that are genetically associated with CNTNAP2 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E (Jan 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. doi:10.1016/S0896-6273(00)81049-1. PMID 10624965. Check date values in:
|year= / |date= mismatch(help) - ↑ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (May 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. doi:10.1093/dnares/5.6.355. PMID 10048485. Check date values in:
|year= / |date= mismatch(help) - 1 2 "Entrez Gene: CNTNAP2 contactin associated protein-like 2".
- ↑ Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH (2008). "Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene". Am. J. Hum. Genet. 82 (1): 150–9. doi:10.1016/j.ajhg.2007.09.005. PMC 2253955
. PMID 18179893. Lay summary – UCLA Newsroom (2008-01-10). - ↑ Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (2008). "A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism". Am. J. Hum. Genet. 82 (1): 160–4. doi:10.1016/j.ajhg.2007.09.015. PMC 2253968. PMID 18179894. Lay summary – Johns Hopkins Medicine (2008-01-22).
- ↑ Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW (2008). "Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders". Am. J. Hum. Genet. 82 (1): 165–73. doi:10.1016/j.ajhg.2007.09.017. PMC 2253974. PMID 18179895.
- ↑ Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE (November 2008). "A functional genetic link between distinct developmental language disorders". N. Engl. J. Med. 359 (22): 2337–45. doi:10.1056/NEJMoa0802828. PMC 2756409. PMID 18987363.
- Jon Cohen (5 November 2008). "First Genetic Clue to Common Speech Disorder". ScienceNOW Daily News.
- ↑ Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D (Sep 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. PMC 2172849. PMID 12975355.
Further reading
- 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. PMID 11352571.
- Spiegel I, Salomon D, Erne B, Schaeren-Wiemers N, Peles E (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. doi:10.1006/mcne.2002.1110. PMID 12093160.
- Nakayama M, Kikuno R, Ohara O (2002). "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. PMC 187542. PMID 12421765.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (2002). "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. PMC 139241. PMID 12477932.
- Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA (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. doi:10.1046/j.1460-9568.2003.02441.x. PMID 12542678.
- Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA (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. PMID 12809671.
- Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D (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. PMC 2172849. PMID 12975355.
- Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (2004). "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. PMID 15203218.
- Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH (2006). "Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2". N. Engl. J. Med. 354 (13): 1370–7. doi:10.1056/NEJMoa052773. PMID 16571880.
- Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z (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. PMID 17392702.
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