PIK3R2

PIK3R2

A gene on chromosome 19q13.2-q13.4 that encodes a regulatory subunit of phosphoinositide 3-kinase. PIK3R2 binds to activated (phosphorylated) protein-Tyr kinases through its SH2 domain and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane.
Mentioned in ?
References in periodicals archive ?
High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.
Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also found to be associated with a constellation of disorders including cancer, hydrocephalus, epilepsy, autism, vascular anomalies and skin growth disorders.
AKT3, PIK3R2 and PIK3CA are present in all humans, but mutations in the genes are what lead to conditions including megalencephaly, cancer and other disorders.