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Gene Review

CNTNAP2  -  contactin associated protein-like 2

Homo sapiens

Synonyms: AUTS15, CASPR2, CDFE, Caspr2, Cell recognition molecule Caspr2, ...
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Disease relevance of CNTNAP2

  • We analysed by immunohistochemistry on free-floating sections from multiple sclerosis brains the expression and distribution of nodal (Na(v) channels), paranodal (paranodin/Caspr) and juxtaparanodal (K(v) channels and Caspr2) molecules in demyelinated and remyelinated lesions [1].

Psychiatry related information on CNTNAP2


High impact information on CNTNAP2

  • This association involves the C-terminal sequence of Caspr2, which contains a putative PDZ binding site [3].
  • We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K(+) channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS [2].
  • The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35-q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35-q36;p21p23) and 46,XY,der(7)ins(7;2)(q35-q36;p213p23)] share a chromosome 2p21-p23 insertion on chromosome 7q35-q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2) [2].
  • Although ultrastructural studies indicate that paranodal complexes are linked to the cytoskeleton, the intracellular partners of Caspr/paranodin, as well as those of Caspr2, are poorly characterized [4].
  • To study the human contactin-associated protein-like 2 gene (CNTNAP2), we have determined its complete DNA sequence and its genomic organization to comprise 25 exons spanning greater than 2.0 Mb of DNA at 7q35 [5].

Anatomical context of CNTNAP2


Other interactions of CNTNAP2

  • We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes [6].
  • In contrast to the demyelinated plaques, all remyelinated lesions are characterized by the detection of aggregates of Na(v) channels, paranodin/Caspr, K(v) channels and Caspr2 [1].


  1. Nodal, paranodal and juxtaparanodal axonal proteins during demyelination and remyelination in multiple sclerosis. Coman, I., Aigrot, M.S., Seilhean, D., Reynolds, R., Girault, J.A., Zalc, B., Lubetzki, C. Brain (2006) [Pubmed]
  2. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Verkerk, A.J., Mathews, C.A., Joosse, M., Eussen, B.H., Heutink, P., Oostra, B.A. Genomics (2003) [Pubmed]
  3. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Poliak, S., Gollan, L., Martinez, R., Custer, A., Einheber, S., Salzer, J.L., Trimmer, J.S., Shrager, P., Peles, E. Neuron (1999) [Pubmed]
  4. Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres. Denisenko-Nehrbass, N., Oguievetskaia, K., Goutebroze, L., Galvez, T., Yamakawa, H., Ohara, O., Carnaud, M., Girault, J.A. Eur. J. Neurosci. (2003) [Pubmed]
  5. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Nakabayashi, K., Scherer, S.W. Genomics (2001) [Pubmed]
  6. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. Strauss, K.A., Puffenberger, E.G., Huentelman, M.J., Gottlieb, S., Dobrin, S.E., Parod, J.M., Stephan, D.A., Morton, D.H. N. Engl. J. Med. (2006) [Pubmed]
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