RGS7
Homo sapiens
Gene Name: regulator of G-protein signaling 7
Aliases: RP11-80B9.3
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Rare Single Gene variant-Multigenic CNV
Aliases: RP11-80B9.3
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Rare Single Gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 10
Evidence score: null
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 10
Evidence score: null
| Associated Disorders: |
|
Relevance to Autism
Rare variants in the RGS7 gene have been identified with autism (Pinto et al., 2010; Najmabadi et al., 2011).
Molecular Function
Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(o)-alpha is specifically enhanced by the RGS6/GNG5 dimer. May play a role in synaptic vesicle exocytosis as well as an important role in the rapid regulation of neuronal excitability and the cellular responses to short-lived stimulations.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Recent Recommendation
Gbeta5 recruits R7 RGS proteins to GIRK channels to regulate the timing of neuronal inhibitory signaling.
