Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism  

Four independent studies have uncovered different autism-associated variants in the gene CNTNAP2 (contactin-associated protein-like 2), making this gene the first to have multiple variants associated with the disorder. The CNTNAP2 gene encodes a cell adhesion protein that regulates signaling between neurons at a specialized region known as the synapse. As members of the neurexin family, CNTNAP2 proteins organize the synapse on the signal-receiving cell, in part by coordinating the localization of signal receptors to the area. The CNTNAP2 gene is highly expressed in the neurons that control language and language development. Disrupting the gene's activity may impair synapse formation in these neurons and potentially affect language abilities. Moreover, because CNTNAP2 may be in a fragile region of the genome that is highly susceptible to mutations, the gene may underlie a significant number of autism cases. Chakravarti and his team plan a comprehensive hunt for more variants that are associated with autism and to determine how they affect gene function. Project Status
ONGOING

2009

Funder Simons Foundation
Fiscal Year Funding $464,600.68
Project Number SFARI-07-07
Principal Investigator Chakravarti, Aravinda
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution Johns Hopkins University School of Medicine
State/Country Maryland
Web Link 1 The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism | $464,600.68 | 2008 | Project number unavailable
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | $464,600.68 | 2010 | SFARI-07-07