Disease-gene associations mined from literature

Literature associating PIK3R2 and CLOVES syndrome

PIK3R2 [ENSP00000222254]

Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; 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. 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).

Synonyms:  PIK3R2,  PIK3R2p,  hPIK3R2,  E9PFP1,  O00459 ...

Linkouts:  STRING  Pharos  UniProt  OMIM