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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.

External Links

        

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.
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 
 GEN036R003 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN036R004 
 intergenic_variant 
 G>T 
  
  
  
 Unknown 
 GEN036R005 
 missense_variant 
 c.752A>C 
 p.Tyr251Ser 
  
  
  
 GEN036R006 
 missense_variant 
 c.391C>T 
 p.Pro131Ser 
 De novo 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 3
 
11
Duplication
 2
 

Model Summary

Cadm1 plays roles in regulating emotional behaviors, social behaviors and motor performances.

References

Type
Title
Author, Year
Additional
Oligo-astheno-teratozoospermia in mice lacking RA175/TSLC1/SynCAM/IGSF4A, a cell adhesion molecule in the immunoglobulin superfamily.
Primary
Impairment of social and emotional behaviors in Cadm1-knockout mice.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of exon 1 of the Cadm1 gene with the lacZ reporter gene cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129Sv/Ev
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Reproductive system development1
Decreased
 Histology
 10-12 weeks
Reproductive system development1
Decreased
 General observations
 Unreported
Reproductive system development1
Decreased
 Measurement of tissue weight
 Unreported
Reproductive system development1
 No change
 General observations
 Unreported
Brain development1
 No change
 NA
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
APC adenomatous polyposis coli 324 P25054 HITS-CLIP
Preitner N , et al. 2014
BMI1 BMI1 polycomb ring finger oncogene 648 P35226 Gene microarray; qRT-PCR; ChIP
Ochiai H , et al. 2010
Cadm1 cell adhesion molecule 1 363058 Q6AYP5 Affinity chromatography
Fogel AI , et al. 2007
CADM1 cell adhesion molecule 1 54725 Q8R5M8 Affinity chromatography
Fogel AI , et al. 2007
Cadm2 cell adhesion molecule 2 360687 Q1WIM2 Affinity chromatography
Fogel AI , et al. 2007
CRTAM cytotoxic and regulatory T cell molecule 56253 O95727 Conjugate assay by two-flow cytometry
Boles KS , et al. 2005
Epb4.1l2 erythrocyte protein band 4.1-like 2 13822 O70318 IP/WB
Terada N , et al. 2010
EPB41L3 erythrocyte membrane protein band 4.1-like 3 23136 Q9Y2J2 GST; IP/WB
Yageta M , et al. 2002
Erbb3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) 13867 Q61526 IP/WB
Kawano S , et al. 2009
F2rl2 coagulation factor II (thrombin) receptor-like 2 14064 O08675 GST
Fujita E , et al. 2007
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 3815 P10721 IP/WB
Hollins F , et al. 2008
MPP1 membrane protein, palmitoylated 1, 55kDa 4354 Q96Q89 IP/WB
Sakurai-Yageta M , et al. 2009
MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 4355 Q14168 IP/WB
Sakurai-Yageta M , et al. 2009
MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 4356 Q13368 Y2H; GST; IP/WB
Fukuhara H , et al. 2003
PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 5687 P60900 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 5783 O14603 IP/WB
Kawano S , et al. 2009
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
SPPL2B signal peptide peptidase like 2B 56928 Q8TCT7 IP; LC-MS/MS
Huttlin EL , et al. 2015
St8sia2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 20450 O35696 Polysialylation assay
Galuska SP , et al. 2010
ST8SIA4 CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase 100689217 Q64690 Polysialylation assay
Galuska SP , et al. 2010
TIAM1 T-cell lymphoma invasion and metastasis 1 7074 Q13009 GST; IP/WB
Masuda M , et al. 2010

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