Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. [ 5 ] [ 6 ] [ 7 ] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors.

Mar 30, 2025 · CNTNAP2 (Contactin Associated Protein 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Pitt-Hopkins-Like Syndrome 1 and Autism 15. Among its related pathways are Primary ovarian insufficiency and Neuroscience. Gene Ontology (GO) annotations related to this gene include enzyme binding.

The CNTNAP2 gene encodes Contactin-associated protein 2 or CASPR2, a neuronal cell-adhesion protein. CNTNAP2 is the largest gene in the human genome. In the brain and the rest of the nervous system, the CNTNAP2 protein is involved in interactions between neurons and between neurons and glial cells.

Cntnap2 mutant mice show deficits in the three core domains of ASD: reduced vocal communication, repetitive and restrictive behaviors, and abnormal social interactions.

Feb 8, 2025 · CNTNAP2 gene has been found to be associated with language disorders and sequential learning and phonological buffer's performances. Mutations in CNTNAP2 have been associated with language impairments at a behavioral …

Mar 1, 2024 · Mutations in the Contactin-associated protein-like 2 (CNTNAP2) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its function.

CNTNAP2 is a prominent disease susceptibility gene associated with Autism Spectrum Disorder (ASD), Intellectual Disability (ID), Schizophrenia (SCZ), epilepsy, and is causative for Cortical Dysplasia Focal Epilepsy (CDFE) syndrome (Rodenas-Cuadrado et al., 2014).

CNTNAP2 mutations produce a complex disorder, yet the core endophenotypes displayed by individuals carrying CNTNAP2 disruptions are to a degree, consistent. Evidence from patient and animal model data are giving insight into the cause of these disturbances, with CASPR2 implicated in neuronal connectivity at the cellular and network level ...

Oct 17, 2022 · In this study, we performed an integrative multi-omics analysis by combining quantitative proteometabolomic data obtained with Cntnap2 knockout (KO) mice with multi-omics data obtained from ASD...

Jun 5, 2023 · In this study, we found a motif within the transmembrane domain of CNTNAP2 was highly homologous to the γ-secretase cleavage site of amyloid-β precursor protein (APP), suggesting that CNTNAP2...