Elsevier

Genomics

Volume 73, Issue 1, 1 April 2001, Pages 108-112
Genomics

Short Communication
The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35

https://doi.org/10.1006/geno.2001.6517Get rights and content

Abstract

Contactin-associated genes are members of the neurexin superfamily that encode a group of transmembrane proteins that mediate cell–cell interactions in the nervous system. 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. Our results indicate that CNTNAP2 encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome.

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Cited by (28)

  • The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population

    2017, Journal of Clinical Neuroscience
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    The Contactin-associated protein-like 2 gene (CNTNAP2) which has been shown to be involved in ASD is expressed in areas of the brain that are associated with ASD [12,13]. CNTNAP2 is a member of the neurexin superfamily contains 24 exons, spans 2.3 Mb on Chromosome 7q, and is one of the largest mammalian genes [14]. CNTNAP2 is highly expressed the brain and spinal cord during development, encodes contactin associated protein-like 2 (Caspr2) which is a neuronal transmembrane scaffolding protein that clustering K+ channels at the juxtaparanodal region of the nodes of Ranvier in myelinated axons and is believed that it contribute to cellular migration and subsequent laminar organization [15,16].

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    2016, Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
  • Topoisomerases interlink genetic network underlying autism

    2015, International Journal of Developmental Neuroscience
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    One of the candidate genes associated with autism, (Alarcon et al., 2008; Abrahams et al., 2008) which is also regulated by topoisomerase, (Mabb et al., 2014) is CNTNAP2. CNTNAP2 is an extremely long gene, spanning approximately 2,3 Mb (Nakabayashi and Scherer, 2001), coding CASPR2 protein. CASPR2 belongs to the contactin-associated protein family and is highly homologous to neurexins (NRXN), a presynaptic cell-adhesion molecule.

  • What does CNTNAP2 reveal about autism spectrum disorder?

    2012, Trends in Molecular Medicine
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    Most of our current knowledge on the function of the gene is based on postnatal studies of mouse brain. The human CNTNAP2 gene is thought to be the largest gene in the genome, spanning approximately 2.3 Mb at chromosomal region 7q35–q36.1 [49]. The CNTNAP2 protein (CASPR2) was identified in 1999 in rodents as a new member of the neurexin superfamily and specifically as the mammalian homolog of the fruit fly (Drosophila melanogaster) neurexin IV, involved in neuron–glia interactions in myelinated axons (Box 3; [50–57]).

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Sequence data from this article have been deposited with the GenBank Data Library under Accession No. AF319045.

1

To whom correspondence should be addressed at the Department of Genetics, Room 9107, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada. Telephone: (416) 813-7613. Fax: (416) 813-8319. E-mail: [email protected].

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