CNTN3
Homo sapiens
Gene Name: contactin 3
Aliases: BIG-1, PANG, PCS
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Rare Single Gene variant
Aliases: BIG-1, PANG, PCS
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the CNTN3 gene has been identified in a patient with ASD (Vaags et al., 2012).
Molecular Function
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Negative Association
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contacti...
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Identifying autism loci and genes by tracing recent shared ancestry.
ASD
