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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

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

Principal Investigator

Principal Investigator

Chakravarti, Aravinda

Description

Description

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.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

464601

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

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.

Project Link

Project Link

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

Institution

Institution

Johns Hopkins University School of Medicine

State/Country

State/Country

Maryland

Project Number

Project Number

SFARI-07-07

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism | 464601 | 2008 | Project number unavailable
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | 464601 | 2010 | SFARI-07-07
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | 116150 | 2011 | SFARI-07-07

 
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