PIK3R2

The SH2 2 domain is required for interaction with FBXL2 and PTPN13.

Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

MPPH1

A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-mediated polyubiquitination (PubMed:23604317).

Ubiquitinated. Polyubiquitination by the SCF(FBXL2) complex probably promotes proteasomal degradation of PIK3R2.

Belongs to the PI3K p85 subunit family.

Phosphatidylinositol 3-kinase regulatory subunit beta, PI3-kinase regulatory subunit beta, PI3K regulatory subunit beta, PtdIns-3-kinase regulatory subunit beta, Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta, PI3-kinase subunit p85-beta, PtdIns-3-kinase regulatory subunit p85-beta, PIK3R2

• entrezGene:5296
• omim:603157
• swissprot:O00459

Proteins

Immunology & Infectious Disease

81545Da