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Relevance to Autism

A mouse model with a loss-of-function mutation in the ARHGAP33 gene exhibited altered social behavior and dendritic spine and synapse development (Schuster et al., 2015).

Molecular Function

This gene encodes a member of the sorting nexin family. Members of this family are involved in intracellular trafficking.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.
Support
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD, epilepsy/seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN713R001a 
 missense_variant 
 c.1495G>A 
 p.Val499Met 
 Familial 
 Both parents 
 Multiplex 
 GEN713R002 
 frameshift_variant 
 c.3166_3167del 
 p.His1056Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN713R003 
 splice_site_variant 
 c.93+1dup 
  
 De novo 
  
  
 GEN713R004 
 missense_variant 
 c.1084C>T 
 p.Arg362Trp 
 De novo 
  
  
 GEN713R005 
 synonymous_variant 
 c.1779G>C 
 p.Thr593= 
 De novo 
  
  
 GEN713R006 
 missense_variant 
 c.2207G>A 
 p.Arg736Gln 
 De novo 
  
  
 GEN713R007 
 missense_variant 
 c.2207G>A 
 p.Arg736Gln 
 De novo 
  
 Simplex 
 GEN713R008a 
 missense_variant 
 c.3691C>T 
 p.Pro1231Ser 
 Unknown 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion
 13
 

M_ARHGAP33_1_KO_HM_EGFP-WTNOMAGAP

Rescue Type: RESCUE-Genetic
Rescue Paradigm: Introduction of wild type, eGFP tagged- NOMAGAP (Arhgap33 protein product) via electroporation at E15.5, to rescue Arhgap33 null induced phenotypes.

M_ARHGAP33_1_KO_HM_EGFP-WTNOMAGAP

Category
Entity
Effect on phenotype Qualification
Restored Treatment improves measured phenotype significantly
Refractory Treatment does not improve measured phenotype (was expected to do so)
Ameliorated Treatment provides partial correction or improvement of measured phenotype
No adverse effect Treatment does not affect the parameter adversely
Sustained effect Treatment has long term effect of restoration or amelioration, tested AFTER stopping administration (not applied for continuing long-term treatment) . Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
No sustained effect Treatment has no long term of restoration or amelioration detectable, after stopping administration. Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
Unexpected results Treats an unexpected phenotype
Side effect Exaggerates an unexpected phenotype
Experimental Paradigm
Age at Testing
Dendritic architecture: dendritic tree complexity1
Restored
Description: Electroporation of the wild type argap33 gene tagged with egfp at e15.5 rescues spine neck length in layer 2/3 of the cortex, which is to be expected
Exp Paradigm: NA
 Fluorescence microscopy
 3 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_ARHGAP33_1_KO_HM_EGFP

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Dendritic architecture: spine density1
 Increased
Description: There is increased spine density in the upper cortical layers(2/3) of arhgap33 null mice, visualized by egfp.
Exp Paradigm: NA
 Fluorescence microscopy
 3 weeks
 Dendritic architecture: dendritic tree complexity1
 Increased
Description: There is an increase in spine neck length, in average, in layer 2/3 of the cortex. increased spine length may be indicative of immature spines according to the authors
Exp Paradigm: NA
 Fluorescence microscopy
 3 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download ARHGAP33's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
NTRK2 neurotrophic receptor tyrosine kinase 2 4915 Q16620 IP/WB; Co-localization
Nakazawa T , et al. 2016
SORT1 sortilin 1 6272 Q99523 IP/WB; Co-localization
Nakazawa T , et al. 2016
Dlg2 discs, large homolog 2 (Drosophila) 23859 Q91XM9 IP/WB
Schuster S , et al. 2015
Dlg3 discs, large homolog 3 (Drosophila) 53310 P70175 IP/WB
Schuster S , et al. 2015
Dlg4 Postsynaptic density protein 95 13385 Q62108 IP/WB; Co-localization
Schuster S , et al. 2015

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