AGTR2
Homo sapiens
Gene Name: angiotensin II receptor, type 2
Aliases: AT2, ATGR2, MRX88
Chromosome No: X
Chromosome Band: Xq23
Genetic Category: Rare Single Gene variant-
Aliases: AT2, ATGR2, MRX88
Chromosome No: X
Chromosome Band: Xq23
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 10
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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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
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
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
Recent Recommendation
Angiotensin II type-2 receptor stimulation prevents neural damage by transcriptional activation of methyl methanesulfonate sensitive 2.
