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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. Rare mutations in the AGTR2 gene have also been identified with mental retardation. These mutations included translocation, frameshift and missense variations.

Molecular Function

The protein encoded by this gene is an integral membrane protein that belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
AGTR2 mutations in X-linked mental retardation.
ID
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy.
PDD, ID, Epilepsy
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Recent Recommendation
Angiotensin II type-2 receptor stimulation prevents neural damage by transcriptional activation of methyl methanesulfonate sensitive 2.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN007R001 
 translocation 
  
  
 De novo 
 NA 
  
 GEN007R002 
 frameshift_variant 
 c.402del 
 p.Phe134LeufsTer5 
  
  
 Multiplex 
 GEN007R003 
 missense_variant 
 c.62G>T 
 p.Gly21Val 
  
  
  
 GEN007R004 
 missense_variant 
 c.971G>A 
 p.Arg324Gln 
  
  
  
 GEN007R005 
 missense_variant 
 c.1009A>G 
 p.Ile337Val 
  
  
  
 GEN007R006 
 missense_variant 
 c.572G>A 
 p.Gly191Glu 
 Familial 
 Maternal 
 Simplex 
 GEN007R007 
 missense_variant 
 c.244T>C 
 p.Tyr82His 
 De novo 
 NA 
 Simplex 
 GEN007R008 
 stop_gained 
 c.757C>T 
 p.Gln253Ter 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 16
 
X
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Agtrap angiotensin II, type I receptor-associated protein 11610 Q9WVK0 Y2H; Affinity chromatography; IP/WB
Daviet L , et al. 1999
MTUS1 microtubule associated tumor suppressor 1 57509 Q9ULD2 Y2H; IP/WB
Nouet S , et al. 2004

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