CNTNAP2

Contactin associated protein-like 2
Identifiers
Symbols	CNTNAP2; AUTS15; CASPR2; CDFE; DKFZp781D1846; NRXN4; PTHSL1
External IDs	OMIM: 604569 MGI: 1914047 HomoloGene: 69159 GeneCards: CNTNAP2 Gene
Gene Ontology Molecular function • receptor binding Cellular component • plasma membrane • voltage-gated potassium channel complex • integral to membrane • dendrite • axolemma • juxtaparanode region of axon • juxtaparanode region of axon • cell body fiber Biological process • cell adhesion • signal transduction • brain development • behavior • neuron recognition • transmission of nerve impulse • striatum development • limbic system development • thalamus development • cerebral cortex development • neuron projection development • cellular protein localization • clustering of voltage-gated potassium channels • superior temporal gyrus development • protein localization to juxtaparanode region of axon Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	26047	66797
Ensembl	ENSG00000174469	ENSMUSG00000039419
UniProt	Q9UHC6	Q3SYI6
RefSeq (mRNA)	NM_014141	NM_001004357
RefSeq (protein)	NP_054860	NP_001004357
Location (UCSC)	Chr 7: 145.81 – 148.12 Mb	Chr 6: 45.01 – 47.25 Mb
PubMed search	[1]	[2]

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.^[1][2][3]

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.^[3]

CNTNAP2 has recently been associated with autism spectrum disorder but accounts for very few cases.^[4][5][6] CNTNAP2 may also be related to a disorder called specific language impairment.^[7]

Interactions

CNTNAP2 has been shown to interact with CNTN2.^[8]

References

1. ^ 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. 
2. ^ 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. 
3. ^ ^{a b} "Entrez Gene: CNTNAP2 contactin associated protein-like 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26047. 
4. ^ Alarcón M, Abrahams BS, Stone JL et al. (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. http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00011-0. Lay summary – UCLA Newsroom (2008-01-10). 
5. ^ Arking DE, Cutler DJ, Brune CW et al. (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. http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00021-3. Lay summary – Johns Hopkins Medicine (2008-01-22). 
6. ^ Bakkaloglu B, O'Roak BJ, Louvi A et al. (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. http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00023-7. 
7. ^ Sonja C. Vernes et al. (November 2008). "A Functional Genetic Link between Distinct Developmental Language Disorders". The New England Journal of Medicine 359 (22): 2337–45. doi:10.1056/NEJMoa0802828. PMC 2756409. PMID 18987363. http://content.nejm.org/cgi/content/full/NEJMoa0802828. 
   • Jon Cohen (5 November 2008). "First Genetic Clue to Common Speech Disorder". ScienceNOW Daily News. http://sciencenow.sciencemag.org/cgi/content/full/2008/1105/4. 
8. ^ Traka, Maria; Goutebroze Laurence, Denisenko Natalia, Bessa Maria, Nifli Artemisia, Havaki Sophia, Iwakura Yoichiro, Fukamauchi Fumihiko, Watanabe Kazutada, Soliven Betty, Girault Jean-Antoine, Karagogeos Domna (Sep. 2003). "Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers". J. Cell Biol. (United States) 162 (6): 1161–72. doi:10.1083/jcb.200305078. ISSN 0021-9525. PMC 2172849. PMID 12975355. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2172849. 

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, 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. doi:10.1006/mcne.2002.1110. PMID 12093160. 
• 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. PMC 187542. PMID 12421765. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=187542. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. doi:10.1046/j.1460-9568.2003.02441.x. PMID 12542678. 
• 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. PMC 2882961. PMID 12690205. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2882961. 
• 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. doi:10.1016/S0888-7543(03)00097-1. PMID 12809671. 
• 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. PMID 12853948. 
• 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. PMC 2172849. PMID 12975355. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2172849. 
• 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. PMID 14702039. 
• 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. PMID 15203218. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Strauss KA, Puffenberger EG, Huentelman MJ et al. (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. http://content.nejm.org/cgi/content/full/354/13/1370. 
• 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. PMID 17392702.