ARHGAP15
Homo sapiens
Gene Name: Rho GTPase activating protein 15
Aliases: BM-024, BM046
Chromosome No: 2
Chromosome Band: 2q22.2-q22.3
Genetic Category: Rare Single Gene variant-Functional
Aliases: BM-024, BM046
Chromosome No: 2
Chromosome Band: 2q22.2-q22.3
Genetic Category: Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 9
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 11
Evidence score: 2
ASD Reports: 9
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the ARHGAP15 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
GTPase activator for the Rho-type GTPases by converting them to inactive GDP-bound state.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
ArhGAP15, a novel human RacGAP protein with GTPase binding property.
Recent Recommendation
Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypanosoma congolense infection.
Recent Recommendation
The RacGAP ArhGAP15 is a master negative regulator of neutrophil functions.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.