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Relevance to Autism

CADM2 was identified in an ASD candidate gene via homozygous haplotype mapping analysis performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs) (Casey et al., 2012).

Molecular Function

Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
ASD
Positive Association
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eos...
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
ASD
Support
Expression and adhesion profiles of SynCAM molecules indicate distinct neuronal functions.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN670R001 
 missense_variant 
 c.1193C>A 
 p.Thr398Lys 
 De novo 
 NA 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN670C001 
 intron_variant 
 rs78122814 
 c.61+191215G>A;c.61+191216G>A 
 Minor allele, A 
 601 ASD cases, 1840 controls 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 7
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Deletion
 2
 

No Animal Model Data Available

 

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