SRGAP3
Homo sapiens
Gene Name: SLIT-ROBO Rho GTPase activating protein 3
Aliases: ARHGAP14, MEGAP, SRGAP2, WRP
Chromosome No: 3
Chromosome Band: 3p25.3
Genetic Category: Rare single gene variant-
Aliases: ARHGAP14, MEGAP, SRGAP2, WRP
Chromosome No: 3
Chromosome Band: 3p25.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 9
Evidence score: 3
ASD Reports: 6
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the SRGAP3 gene (one predicted to be probably damaging, the other predicted to be possibly damaging) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014.
Molecular Function
GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.
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
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.
ID
Recent Recommendation
ASD-Associated De Novo Mutations in Five Actin Regulators Show Both Shared and Distinct Defects in Dendritic Spines and Inhibitory Synapses in Cult...
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
DD