CNTNAP3
Homo sapiens
Gene Name: contactin associated protein-like 3
Aliases: RP11-204I2.1, CASPR3, CNTNAP3A, RP11-138L21.1, RP11-290L7.1
Chromosome No: 9
Chromosome Band: 9p12
Genetic Category: Rare Single Gene variant-Functional-Rare single gene variant/Functional
Aliases: RP11-204I2.1, CASPR3, CNTNAP3A, RP11-138L21.1, RP11-290L7.1
Chromosome No: 9
Chromosome Band: 9p12
Genetic Category: Rare Single Gene variant-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 3
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A rare mutation in the CNTNAP3 gene has been identified in a patient with Asperger syndrome (Vaags et al., 2012).
Molecular Function
The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined.
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
Support
Caspr3-Deficient Mice Exhibit Low Motor Learning during the Early Phase of the Accelerated Rotarod Task.
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.
ASD
Support
Elevated mRNA expression of CASPR3 in patients with schizophrenia.
SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN307R009
frameshift_variant
c.2765_2766insACTTGTGCTCATGAAGGAGTGGTTACTCCTGATGTTGGCTTGAGATATAAAAAGGGCTCTGTATTTGCACCAGAGCTATGAGATTT
p.Thr923LeufsTer14
De novo
Common
No Common Variants Available
