PIK3R2
Homo sapiens
Gene Name: phosphoinositide-3-kinase regulatory subunit 2
Aliases: MPPH, P85B, p85, p85-BETA
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Syndromic-Rare single gene variant
Aliases: MPPH, P85B, p85, p85-BETA
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 5
Evidence score: 2
ASD Reports: 10
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Exome sequencing of families with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) identified a recurrent missense variant in the PIK3R2 gene in 11 unrelated families; in one of these families, an affected male sibling was also diagnosed with Asperger syndrome, while one of two affected female siblings also had Asperger-like features (Riviere et al., 2012).
Molecular Function
Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Megalencephaly
DD, epilepsy, ASD
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Support
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
ID
Macrocephaly
Support
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
DD, megalencephaly
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
