CNTNAP2
Function
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.
Involvement in disease
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 intellectual disability.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
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 intellectual disability 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the neurexin family.
Tissue Specificity
Predominantly expressed in nervous system.
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Cell projection
- Axon
- Cell junction
- Paranodal septate junction
- Expressed in the juxtaparadonal region.
Alternative names
CASPR2, KIAA0868, CNTNAP2, Contactin-associated protein-like 2, Cell recognition molecule Caspr2