CNTNAP2 - contactin associated protein-like 2
Entrez Gene Name: contactin associated protein-like 2
Entrez GeneID: Human(26047)
, Mouse(66797), Rat(362355)
, Mouse(66797), Rat(362355) Synonyms: 5430425M22Rik, AUTS15, CASPR2, CDFE, CNTNAP2, DKFZp781D1846, mKIAA0868, NRXN4
Gene Summary
- Human (26047): 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. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Role in cell:
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Biological Process
cell adhesion, neuron recognition, signal transduction, transmission of nerve impulse
Literature References
- 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
- 12975355Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D. Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers.J Cell Biol 2003 Sep 15;162(6):1161-72
- 12963709Poliak S, Salomon D, Elhanany H, Sabanay H, Kiernan B, Pevny L, Stewart CL, Xu X, Chiu SY, Shrager P, Furley AJ, Peles E. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1.J Cell Biol 2003 Sep 15;162(6):1149-60 View 115 categorized literature findings and their references in IPA
Subcellular Locations
axon initial segments, axons, cell surface, cellular membrane, juxtaparanodes, membrane fraction, membrane surface, paranodes, plasma membrane
