HELP     Sign In
Search

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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
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
Highly Cited
SynCAM, a synaptic adhesion molecule that drives synapse assembly.
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.
Recent Recommendation
Cdk5 promotes synaptogenesis by regulating the subcellular distribution of the MAGUK family member CASK.

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 
 GEN036R003 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN036R004 
 intergenic_variant 
 G>T 
  
  
  
 Unknown 
 GEN036R005 
 missense_variant 
 c.752A>C 
 p.Tyr251Ser 
  
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 3
 
11
Duplication
 1
 

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.

M_CADM1_3_KO_HM

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

M_CADM1_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
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

M_CADM1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exon 1 and part of intron 1 were replaced with a lacZ-neo cassette. LacZ expression was confirmed using X-galactosidase staining.
Allele Type: Targeted (knockout, reporter)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CADM1_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Exon 1 and part of intron 1 were replaced with a lacZ-neo cassette. LacZ expression was confirmed using X-galactosidase staining.
Allele Type: Targeted (knockout, reporter)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CADM1_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Reproductive system development1
Decreased
Description: Decreased reproductive ability demonstrated by decreased weight of testes along with spermatozoa lost in the seminiferous tubules
Exp Paradigm: measurement of tissue weight
 Measurement of tissue weight
 Unreported
Reproductive system development1
Decreased
Description: Reduced and abnormal development of seminiferous tubules with irregularly shaped heads of spermatozoa, abnormally arranged mitochondria, erroneously attached flagella
Exp Paradigm: Detailed histological analysis of seminiferous tubules
 Histology: Histology
 10-12 weeks
Reproductive system development1
Decreased
Description: Mutant mice are infertile
Exp Paradigm: General observations in male mice
 General observations
 Unreported
Reproductive system development1
 No Change
 General observations
 Unreported
Brain development1
 No Change
 
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_CADM1_4_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Reproductive system development1
 No Change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_CADM1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance1
Decreased
Description: Decreased coordination is observed in the accelerating rotarod test
Exp Paradigm: Rotarod test
 Accelerating rotarod test
 13-19 weeks
Gait1
Increased
Description: Increased hindpaw base width
Exp Paradigm: Foot print test
 Footprint analysis
 14-22 weeks
Aggression1
Increased
Description: Increased aggression demonstrated by shorter attack latency, longer attack duration, higher attack frequency
Exp Paradigm: Resident-intruder test
 Resident-intruder test
 12 months
Social memory1
Decreased
Description: Impaired social memory as the mutant mice show no preference to new female versus familiar female mice
Exp Paradigm: Social memory/recognition test
 Social recognition test
 11-17 weeks
Social interaction1
Decreased
Description: Decreased social interation with genotypically identical mice
Exp Paradigm: Social interaction test with genetically identical mice
 Reciprocal social interaction test
 5 months
Anxiety1
Increased
Description: Increased anxiety demonstrated by less time spent in the light box
Exp Paradigm: Light-Dark test
 Light-dark exploration test: Light-dark exploration test
 10-15 weeks
Anxiety1
Increased
Description: Increased anxiety demonstrated by reduced center time in the open-field test
Exp Paradigm: Open-field test
 Open field test
 10-15 weeks
Depression1
 No Change
 Tail suspension test
 14-19 weeks
Gait1
 No Change
 Footprint analysis
 14-22 weeks
Grip strength1
 No Change
 Grip strength test
 14-20 weeks
Hearing1
 No Change
 Startle response test: Startle response test
 Unreported
Olfaction1
 No Change
 Buried food test
 21-28 weeks
Pain or nociception1
 No Change
 Tail flick test
 14-19 weeks
Pain or nociception1
 No Change
 Hot plate test
 14-19 weeks
Vision1
 No Change
 Forepaw reaching test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure

M_CADM1_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social interaction1
 No Change
 Reciprocal social interaction test
 5 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
BMI1 BMI1 polycomb ring finger oncogene 648 P35226 Gene microarray; qRT-PCR; ChIP
Ochiai H , 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
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
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
APC adenomatous polyposis coli 324 P25054 HITS-CLIP
Preitner N , et al. 2014
Cadm1 cell adhesion molecule 1 363058 Q6AYP5 Affinity chromatography
Fogel AI , et al. 2007
Cadm2 cell adhesion molecule 2 360687 Q1WIM2 Affinity chromatography
Fogel AI , et al. 2007
Epb4.1l2 erythrocyte protein band 4.1-like 2 13822 O70318 IP/WB
Terada N , et al. 2010
F2rl2 coagulation factor II (thrombin) receptor-like 2 14064 O08675 GST
Fujita E , et al. 2007
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
CADM1 cell adhesion molecule 1 54725 Q8R5M8 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

HELP
Copyright © 2017 MindSpec, Inc.