CNTN5
Homo sapiens
Gene Name: Contactin 5
Aliases: HNB-2s, MGC163491, NB-2
Chromosome No: 11
Chromosome Band: 11q22.1
Genetic Category: Rare single gene variant-Genetic association
Aliases: HNB-2s, MGC163491, NB-2
Chromosome No: 11
Chromosome Band: 11q22.1
Genetic Category: Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 11
Recent Reports: 0
Annotated variants: 36
Associated CNVs: 7
Evidence score: 3
ASD Reports: 11
Recent Reports: 0
Annotated variants: 36
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A paternally-inherited deletion of the CNTN5 gene co-segregated with ASD in a multiplex family with three affected male children (van Daalen et al., 2011)
Molecular Function
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
ASD
Positive Association
A candidate gene association study further corroborates involvement of contactin genes in autism.
ASD
Positive Association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
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
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, epilepsy/seizures
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN385R005
missense_variant
c.2368T>A
p.Leu790Ile
Familial
Extended multiplex (at least one pair of ASD affec
GEN385R014
missense_variant
c.2415A>C
p.Glu805Asp
Familial
Maternal
Multiplex
GEN385R018
missense_variant
c.2798C>T
p.Ser933Phe
Familial
Maternal
Multiplex
GEN385R027
missense_variant
c.3194A>T
p.Tyr1065Phe
Familial
Maternal
Unknown
GEN385R029a
missense_variant
c.460G>C
p.Asp154His
Familial
Both parents
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN385C001
intron_variant
rs6590473
c.878-20611T>C;c.656-20611T>C
Allele 1, G; allele 2, A
67 ASD patients and 117 healthy controls
Discovery
GEN385C002
intron_variant
rs1035339
c.878-6106C>T;c.656-6106C>T
67 ASD patients and 117 healthy controls
Discovery
GEN385C003
intron_variant
rs1453576
c.674-8709A>C;c.452-8709A>C
C/A
67 ASD patients and 117 healthy controls
Discovery
GEN385C004
intron_variant
rs7942402
c.56-96487G>T;c.56-121795G>T;c.56-121796G>T
Allele 1, C; allele 2, A
67 ASD patients and 117 healthy controls
Discovery
GEN385C005
intron_variant
rs6590446
c.674-15646C>T;c.452-15646C>T
Allele 1, A; allele 2, G
67 ASD patients and 117 healthy controls
Discovery