CNTNAP2

From Wikipedia, the free encyclopedia

Contactin associated protein-like 2

Identifiers

CNTNAP2; NRXN4; CASPR2; CDFE; DKFZp781D1846

External IDs

OMIM: 604569 MGI: 1914047 HomoloGene: 69159

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• cell adhesion • neuron recognition • transmission of nerve impulse

Orthologs

Human

Mouse

Refseq

NM_014141 (mRNA)
NP_054860 (protein)

NM_001004357 (mRNA)
NP_001004357 (protein)

Location

Chr 7: 145.44 - 147.75 Mb

Chr 6: 44.99 - 47.23 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: CNTNAP2 contactin associated protein-like 2.
^ 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. PMID 18179893. Lay summary – UCLA Newsroom (2008-01-10).
^ 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. PMID 18179894. Lay summary – Johns Hopkins Medicine (2008-01-22).
^ 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. PMID 18179895.

[edit] Further reading

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. PMID 10048485.
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. PMID 10624965.
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. 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. PMID 12421765.
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. PMID 12477932.
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. 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. PMID 12690205.
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. 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. PMID 12975355.
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. PMID 15489334.
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.
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.