CNTNAP2

CNTNAP2 (Contactin Associated Protein Like 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Pitt-Hopkins-Like Syndrome 1 and Autism 15. Among its related pathways are Neuroscience and Cell adhesion molecules (CAMs). Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is CNTNAP5.

Contactin Associated Protein Like 2

Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.

Adult behavior Source: BHF-UCL
Brain development Source: BHF-UCL
Cell adhesion Source: UniProtKB-KW
Cerebral cortex development Source: BHF-UCL
Clustering of voltage-gated potassium channels Source: BHF-UCL
Learning Source: BHF-UCL
Limbic system development Source: BHF-UCL
Neuron projection development Source: BHF-UCL
Neuron projection morphogenesis Source: UniProtKB
Neuron recognition Source: UniProtKB
Positive regulation of gap junction assembly Source: UniProtKB
Protein localization to juxtaparanode region of axon Source: BHF-UCL
Social behavior Source: BHF-UCL
Striatum development Source: BHF-UCL
Superior temporal gyrus development Source: BHF-UCL
Thalamus development Source: BHF-UCL
Transmission of nerve impulse Source: UniProtKB
Vocalization behavior Source: BHF-UCL
Vocal learning Source: BHF-UCL

Membrane; Axon; Paranodal septate junction. Expressed in the juxtaparadonal region.

Autism 15 (AUTS15):
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.
Pitt-Hopkins-like syndrome 1 (PTHSL1):
A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones.

Extracellular: 28-1262
Helical: 1263-1283
Cytoplasmic: 1284-1331