ARHGAP5
Homo sapiens
Gene Name: Rho GTPase activating protein 5
Aliases: GFI2, RhoGAP5, p190-B, p190BRhoGAP
Chromosome No: 14
Chromosome Band: 14q12
Genetic Category: Rare single gene variant
Aliases: GFI2, RhoGAP5, p190-B, p190BRhoGAP
Chromosome No: 14
Chromosome Band: 14q12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 5
Evidence score: 3
ASD Reports: 6
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo variants in the ARHGAP5 gene (one loss-of-function variant, one missense variant predicted in silico to be damaging) were identified in ASD probands (De Rubeis et al., 2014; Iossifov et al., 2014). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified ARHGAP5 as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).
Molecular Function
Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
