CNTNAP2

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Contactin associated protein-like 2
Identifiers
Symbols CNTNAP2 ; AUTS15; CASPR2; CDFE; NRXN4; PTHSL1
External IDs OMIM604569 MGI1914047 HomoloGene69159 GeneCards: CNTNAP2 Gene
Orthologs
Species Human Mouse
Entrez 26047 66797
Ensembl ENSG00000174469 ENSMUSG00000039419
UniProt Q9UHC6 Q9CPW0
RefSeq (mRNA) NM_014141 NM_001004357
RefSeq (protein) NP_054860 NP_001004357
Location (UCSC) Chr 7:
145.81 – 148.12 Mb
Chr 6:
45.06 – 47.3 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[edit]

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

References[edit]

  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". 
  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. Lay summaryUCLA 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. Lay summaryJohns 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. 
  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. 
  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. 

Further reading[edit]