PIK3CG
Homo sapiens
Gene Name: phosphoinositide-3-kinase, catalytic, gamma polypeptide
Aliases: PI3K, PIK3, PI3CG, PI3Kgamma
Chromosome No: 7
Chromosome Band: 7q22.3
Genetic Category: Genetic Association-Rare single gene variant
Aliases: PI3K, PIK3, PI3CG, PI3Kgamma
Chromosome No: 7
Chromosome Band: 7q22.3
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
ASD Reports: 6
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the PIK3CG gene and autism in an AGRE cohort (Serajee et al., 2003).
Molecular Function
The encoded protein has phosphatidylinositol 3-kinase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.
ASD
Tuberous Sclerosis
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Highly Cited
Central role for G protein-coupled phosphoinositide 3-kinase gamma in inflammation.
Recent Recommendation
Continuous signaling via PI3K isoforms beta and gamma is required for platelet ADP receptor function in dynamic thrombus stabilization.
Recent Recommendation
Rac1 modulates sphingosine 1-phosphate-mediated activation of phosphoinositide 3-kinase/Akt signaling pathways in vascular endothelial cells.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN194R002
frameshift_variant
c.1282del
p.Leu428TyrfsTer2
De novo
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
