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:
146.12 – 148.42 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]

Clinical significance[edit]

CNTNAP2 has 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.  Check date values in: |year= / |date= mismatch (help)
  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.  Check date values in: |year= / |date= mismatch (help)
  3. ^ a b "Entrez Gene: CNTNAP2 contactin associated protein-like 2". 
  4. ^ Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH (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, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (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, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW (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. ^ Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE (November 2008). "A functional genetic link between distinct developmental language disorders". N. Engl. J. Med. 359 (22): 2337–45. doi:10.1056/NEJMoa0802828. PMC 2756409. PMID 18987363. 
  8. ^ Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D (Sep 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. 

Further reading[edit]