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Relevance to Autism

Rare variants in the MDGA2 gene have been identified with autism (Bucan et al., 2009). In addition, MDGA2 has been found to have genetic association with neuroticism (van den Oord et al., 2008).

Molecular Function

The encoded protein is a member of the immunoglobulin domain cell adhesion molecule subfamily and and is proposed to be involved in regulating neuronal migration and axonal guidance

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Support
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Epilepsy
ADHD
Support
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
ID
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development.
Highly Cited
Identification and characterization of two novel brain-derived immunoglobulin superfamily members with a unique structural organization.
Recent Recommendation
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
Neuroticism
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN156R001 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R002 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R003 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R004 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R005 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R006 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R007 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R008 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R009 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R010 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R011 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN156R012 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN156R013 
 missense_variant 
 c.2788G>A 
 p.Val930Ile 
 De novo 
  
  
 GEN156R014a 
 splice_site_variant 
 c.2232A>G 
 p.Arg744= 
 Familial 
 Both parents 
 Unknown 
 GEN156R015 
 frameshift_variant 
 c.-36_-33del 
  
 Familial 
 Paternal 
 Multiplex 
 GEN156R016 
 frameshift_variant 
 c.-197_-196insTGAGTGTGTTTGTGCATGAGTGTGTG 
  
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 
 GEN156R017a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
14
Deletion-Duplication
 6
 
14
Deletion-Duplication
 14
 

Model Summary

Homozygous Mdga2 knockout mice are perinatal lethal. Mdga2 heterozygous mice have increased asymmetric synapse density, mEPSC frequency and amplitude, and altered LTP, but no changes in inhibitory synapses. Mdga2 mice also demonstrate autism-like phenotype including stereotypy, aberrant social interactions, and impaired memory. The fMRI studies show Mdga2 heterozygous mice have increased cortical spontaneous actvity and intracortical functional connectivity. The abnormal cortical processing caused by Mdga2 deficiencies might result from the disruption of the Neurexin-Neuroligin interactions.

References

Type
Title
Author, Year
Additional
Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2.
Primary
Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: The coding sequence of the first exon is replaced by a LacZ-pA-PGK-Neo-pA cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: C57BL/6 and CBA (TT2)
Mutant ES Cell Line:
Model Source: Riken
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
 Genotypic ratio of progeny from heterozygous parents
 2 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download MDGA2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012

FMR1
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