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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
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
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.
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
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
 GEN386R001 
 copy_number_gain 
  
  
 De novo 
 NA 
 Simplex 
 GEN386R002 
 copy_number_loss 
  
  
 Unknown 
  
 Multiplex 
 GEN386R003 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN386R004 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN386R005 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN386R006 
 copy_number_loss 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R007 
 copy_number_loss 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R008 
 copy_number_loss 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R009 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN386R010 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN386R011 
 copy_number_loss 
  
  
 Unknown 
  
 Simplex 
 GEN386R012 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN386R013 
 copy_number_gain 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R014 
 copy_number_gain 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R015 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN386R016 
 copy_number_gain 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R017 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN386R018 
 copy_number_gain 
  
  
 Unknown 
  
 Multi-generational 
 GEN386R019 
 missense_variant 
 c.1288G>A 
 p.Gly430Arg 
 De novo 
 NA 
 Simplex 
 GEN386R020 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN386R021 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN386R022 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN386R023 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN386R024 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN386R025 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN386R026 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN386R027 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN386R028 
 missense_variant 
 c.112C>G 
 p.Pro38Ala 
 Familial 
 Paternal 
 Multiplex 
 GEN386R029 
 missense_variant 
 c.170C>T 
 p.Ser57Leu 
 Familial 
 Paternal 
 Simplex 
 GEN386R030 
 missense_variant 
 c.325A>G 
 p.Ile109Val 
 Familial 
 Maternal 
 Multi-generational 
 GEN386R031 
 missense_variant 
 c.449T>C 
 p.Phe150Ser 
 Familial 
 Paternal 
 Simplex 
 GEN386R032 
 missense_variant 
 c.928G>A 
 p.Gly310Ser 
 Familial 
 Paternal 
 Possible multi-generational 
 GEN386R033 
 missense_variant 
 c.928G>A 
 p.Gly310Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN386R034 
 missense_variant 
 c.1001A>C 
 p.Asn334Thr 
 Familial 
 Maternal 
 Simplex 
 GEN386R035 
 missense_variant 
 c.1256C>G 
 p.Ser419Cys 
 Familial 
 Paternal 
 Simplex 
 GEN386R036 
 missense_variant 
 c.1585A>C 
 p.Ile529Leu 
 Familial 
 Paternal 
 Multiplex 
 GEN386R037 
 missense_variant 
 c.1585A>C 
 p.Ile529Leu 
 Familial 
 Paternal 
 Multi-generational 
 GEN386R038 
 missense_variant 
 c.2048T>G 
 p.Ile683Ser 
 Familial 
 Paternal 
 Multiplex 
 GEN386R039 
 missense_variant 
 c.2308C>T 
 p.Pro770Ser 
 Familial 
 Paternal 
 Simplex 
 GEN386R040 
 missense_variant 
 c.2309C>T 
 p.Pro770Leu 
 De novo 
 NA 
 Multiplex 
 GEN386R041 
 missense_variant 
 c.2480C>T 
 p.Ala827Val 
 Familial 
 Paternal 
 Simplex 
 GEN386R042 
 missense_variant 
 c.2573G>A 
 p.Ser858Asn 
 Familial 
 Paternal 
 Multi-generational 
 GEN386R043 
 stop_gained 
 c.2768G>A 
 p.Trp923Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN386R044 
 missense_variant 
 c.2873C>T 
 p.Thr958Ile 
 Familial 
 Maternal 
 Simplex 
 GEN386R045 
 missense_variant 
 c.2983T>A 
 p.Ser995Thr 
 Familial 
 Paternal 
 Unknown 
 GEN386R046 
 missense_variant 
 c.908G>A 
 p.Arg303Gln 
 Familial 
 Maternal 
 Simplex 
 GEN386R047 
 missense_variant 
 c.908G>A 
 p.Arg303Gln 
 Familial 
 Unknown 
 Simplex 
 GEN386R048 
 missense_variant 
 c.908G>A 
 p.Arg303Gln 
 Familial 
 Paternal 
 Simplex 
 GEN386R049a 
 missense_variant 
 c.908G>A 
 p.Arg303Gln 
 Familial 
 Both parents 
 Multiplex 
 GEN386R050 
 missense_variant 
 c.908G>A 
 p.Arg303Gln 
 Familial 
  
 Unknown 
 GEN386R051 
 intergenic_variant 
 insA 
  
  
  
 Unknown 
 GEN386R052 
 intergenic_variant 
 G>T 
  
  
  
 Unknown 
 GEN386R053 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 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 
  
 p.Val579Leu 
 Familial 
 Paternal 
 Multiplex 
 GEN386R057 
 missense_variant 
 c.2234C>T 
 p.Ser745Leu 
 Familial 
 Paternal 
 Simplex 

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 53
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Deletion
 4
 
3
Duplication
 11
 
3
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Chl1 "Processed neural cell adhesion molecule L1-like protein" 12661 P70232 IP/WB; Co-localization
Huang Z , et al. 2016
Cntn6 contactin 6 53870 Q9JMB8 IP/WB; bead aggregation assay; Co-localization
Huang Z , et al. 2016
Ptprd protein tyrosine phosphatase, receptor type, D 19266 Q64487 IP/WB
Huang Z , et al. 2016

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