CNTNAP5
Homo sapiens
Gene Name: contactin associated protein-like 5
Aliases: caspr5
Chromosome No: 2
Chromosome Band: 2q14.3
Genetic Category: Genetic Association-Rare Single Gene variant
Aliases: caspr5
Chromosome No: 2
Chromosome Band: 2q14.3
Genetic Category: Genetic Association-Rare Single Gene variant
Summary Statistics:
ASD Reports: 16
Recent Reports: 2
Annotated variants: 24
Associated CNVs: 4
Evidence score: 3
ASD Reports: 16
Recent Reports: 2
Annotated variants: 24
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Rare mutations in the CNTNAP5 gene have been identified with autism in an IMGSAC cohort (Pagnamenta et al., 2010) as well as in two siblings with autism (Vaags et al., 2012). In addition, genetic association has been found of the CNTNAP5 gene with bipolar disorder (in Norwegian and Icelandic cohorts) as well as with treatment response in schizophrenic patients.
Molecular Function
A multidomain transmembrane protein involved in cell adhesion and intercellular communication
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
ASD
Dyslexia
Positive Association
A candidate gene association study further corroborates involvement of contactin genes in autism.
ASD
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
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Specific language impairment
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Epilepsy
ASD, DD, ID
Support
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Support
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
ASD
DD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
New members of the neurexin superfamily: multiple rodent homologues of the human CASPR5 gene.
Recent Recommendation
A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
BPD
Recent Recommendation
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN052R006
missense_variant
c.3701G>A
p.Arg1234Gln
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN052C001
missense_variant
rs17727261
c.1355C>T;c.1358C>T
p.Ser452Leu
CATIE
Discovery
GEN052C002
intron_variant
rs1529289
c.83-63639G>T
Norwegian, Icelandic
Discovery
GEN052C003
intron_variant
rs2420559
c.83-69281A>G
Norwegian, Icelandic
Discovery
GEN052C004
intron_variant
rs2699365
c.83-63121C>A
N/A
Norwegian, Icelandic
Discovery
GEN052C005
intron_variant
rs6721614
c.2074+19018A>G;c.2077+19018A>G
Allele 1, A; allele 2, G
67 ASD patients and 117 healthy controls
Discovery
