protein
Contactin-associated protein-like 2
Gene
CNTNAP2
Organism
Homo sapiens(9606)
Length
1331 aa
Mass
148,167 Da
Contactin-associated protein-like 2 (CNTNAP2) is a 1,331-amino acid protein involved in axonal organization and junction formation (UniProt: Q9UHC6). It is required for gap junction formation and, together with CNTNAP1, orchestrates the radial and longitudinal organization of myelinated axons. CNTNAP2 demarcates the juxtaparanodal region of the axo-glial junction and is critical for saltatory conduction in myelinated nerve fibers.
CNTNAP2 is expressed in neuronal tissues where it plays a structural role in axonal domains. Mutations in CNTNAP2 are associated with Autism 15 (AUTS15) and Pitt-Hopkins-like syndrome 1 (PTHSL1), a condition featuring severe intellectual disability, speech impairment, seizures, and autistic behaviors (UniProt: Q9UHC6).
CNTNAP2 is classified as SFARI Category 2 (strong evidence for autism association) with a syndromic presentation (SFARI Cat 2). The protein's role in establishing axonal organization and neural circuit development underlies its relevance to autism and related neurodevelopmental disorders characterized by both cognitive and behavioral features.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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
Disease associations
Autism 15AUTS15
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.
Pitt-Hopkins-like syndrome 1PTHSL1
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.
Sources
Last updated 5/6/2026, 5:24:13 AM