Gene: CNTNAP2

Alternate names for this Gene: AUTS15|CASPR2|CDFE|NRXN4|PTHSL1

Gene Summary: 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 mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability.

Gene is located in Chromosome: 7

Location in Chromosome : 7q35-q36.1

Description of this Gene: contactin associated protein 2

Type of Gene: protein-coding

rs114360492 in CNTNAP2 gene and Alzheimer's Disease PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 31473137 2019 Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

PMID 26049409 2015 A genome-wide association study of late-onset Alzheimer's disease in a Japanese population.

rs1718101 in CNTNAP2 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs4549702 in CNTNAP2 gene and Body mass index PMID 23192594 2013 Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117834366 in CNTNAP2 gene and Dementia, Vascular PMID 31473137 2019 Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

rs369675346 in CNTNAP2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs540694424 in CNTNAP2 gene and Glaucoma PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs190748049 in CNTNAP2 gene and Low density lipoprotein cholesterol measurement PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

rs802524 in CNTNAP2 gene and Mental disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs4549702 in CNTNAP2 gene and Physical Activity Measurement PMID 23192594 2013 Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.

rs1554490549 in CNTNAP2 gene and Pitt-Hopkins-Like Syndrome 1 PMID 16571880 2006 Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

PMID 21827697 2011 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

rs802524 in CNTNAP2 gene and Psychotic Disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs10255956 in CNTNAP2 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs34088420 in CNTNAP2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.