CADM1
Homo sapiens
Gene Name: cell adhesion molecule 1
Aliases: BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1; MGC51880; MGC149785; DKFZp686F1789; CADM1
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare Single Gene variant
Aliases: BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1; MGC51880; MGC149785; DKFZp686F1789; CADM1
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 4
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2
ASD Reports: 10
Recent Reports: 4
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2
Gene Score: 4
Associated Disorders: |
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Relevance to Autism
Rare variants in the CADM1 gene have been identified with autism (Zhiling et al., 2008).
Molecular Function
The gene encodes a brain-specific, immunoglobulin domain-containing protein. It binds to intracellular PDZ-domain proteins and functions as a homophilic cell adhesion molecule at the synapse.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Highly Cited
SynCAM, a synaptic adhesion molecule that drives synapse assembly.
Recent Recommendation
Cdk5 promotes synaptogenesis by regulating the subcellular distribution of the MAGUK family member CASK.
Recent Recommendation
Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1.
Recent Recommendation
Expression and adhesion profiles of SynCAM molecules indicate distinct neuronal functions.
Recent Recommendation
Gene expression patterns in visual cortex during the critical period: synaptic stabilization and reversal by visual deprivation.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN036R001
missense_variant
c.739C>A
p.His246Asn
Familial
Maternal
Multiplex
GEN036R002
missense_variant
c.755A>C
p.Tyr251Ser
Familial
Paternal
Multiplex
Common
No Common Variants Available