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Relevance to Autism

Rare ARHGAP11B deletions were found in two patients with autism and intellectual disability (Leblond et al., 2012).

Molecular Function

This protein activates Rho-like small GTPases. Small GTPases cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when GDP-bound. The Rho family of GTPases activates effectors involved in a wide variety of developmental processes, including regulation of cytoskeleton formation, cell proliferation and the JNK signaling pathway.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.
Support
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN317R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN317R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN317R003 
 copy_number_loss 
  
  
 De novo 
 NA 
 Multiplex (monozygotic twins) 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Duplication
 66
  construct
15
Duplication
 14
 
15
Duplication
 3
 
15
Deletion-Duplication
 13
 
15
Deletion
 18
 
15
Deletion-Duplication
 15
 
15
Deletion-Duplication
 43
 
15
Deletion-Duplication
 71
  construct

No Animal Model Data Available

 

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