CNTN6
Homo sapiens
Gene Name: Contactin 6
Aliases: MGC133256, NB3
Chromosome No: 3
Chromosome Band: 3p26.3
Genetic Category: Rare single gene variant-Genetic association-Rare single gene variant, Multigenic CNV-
Aliases: MGC133256, NB3
Chromosome No: 3
Chromosome Band: 3p26.3
Genetic Category: Rare single gene variant-Genetic association-Rare single gene variant, Multigenic CNV-
Summary Statistics:
ASD Reports: 17
Recent Reports: 2
Annotated variants: 69
Associated CNVs: 9
Evidence score: 3
ASD Reports: 17
Recent Reports: 2
Annotated variants: 69
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A de novo duplication of the CNTN6 gene was identified in an autistic proband from a simplex family (van Daalen et al., 2011).
Molecular Function
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous 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
Negative Association
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
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
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
ASD
Support
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
ASD, DD, ID, epilepsy/seizures
ADHD, OCD
Support
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
ASD, ID
Support
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Schizophrenia and epilepsy as a result of maternally inherited CNTN6 copy number variant.
SCZ, epilepsy/seizures
Support
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
ASD, ID
Macrocephaly
Support
Association of Cell Adhesion Molecules Contactin-6 and Latrophilin-1 Regulates Neuronal Apoptosis.
Recent Recommendation
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
Tourette syndrome
Recent Recommendation
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN386R033
missense_variant
c.928G>A
p.Gly310Ser
Familial
Maternal
Multiplex
GEN386R036
missense_variant
c.1585A>C
p.Ile529Leu
Familial
Paternal
Multiplex
GEN386R038
missense_variant
c.2048T>G
p.Ile683Ser
Familial
Paternal
Multiplex
GEN386R042
missense_variant
c.2573G>A
p.Ser858Asn
Familial
Paternal
Multiplex
GEN386R049a
missense_variant
c.908G>A
p.Arg303Gln
Familial
Both parents
Multiplex
GEN386R054
missense_variant
c.908G>A
p.Arg303Gln
Familial
Maternal
Simplex
GEN386R055
missense_variant
c.908G>A
p.Arg303Gln
Familial
Maternal
Multiplex
GEN386R056
missense_variant
c.1735G>C
p.Val579Leu
Familial
Paternal
Multiplex
GEN386R057
missense_variant
c.2234C>T
p.Ser745Leu
Familial
Paternal
Simplex
GEN386R065
frameshift_variant
c.2869_2870del
p.Asn957TyrfsTer4
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN386C001
intron_variant
rs9878022
c.-83+8620T>G;c.-162+8620T>G;c.-83+8611T>G;c.-194+8620T>G
C/A
67 ASD patients and 117 healthy controls
Discovery
GEN386C002
intron_variant
rs2872338
c.-83+27237G>A;c.-162+27237G>A;c.-83+27228G>A;c.-193-7910G>A
G/A
67 ASD patients and 117 healthy controls
Discovery
GEN386C003
intron_variant
rs1504076
c.-83+19755A>G;c.-162+19755A>G;c.-83+19746A>G;c.-193-15392A>G
67 ASD patients and 117 healthy controls
Discovery
GEN386C004
intron_variant
rs6797539
c.-83+12397A>G;c.-162+12397A>G;c.-83+12388A>G;c.-194+12397A>G
Allele 1, G; allele 2, A
67 ASD patients and 117 healthy controls
Discovery
