PIK3R2 gene

phosphoinositide-3-kinase regulatory subunit 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]

From UniProt:

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.

From NCBI Gene:

  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

From UniProt:

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. [MIM:603387]

Cytogenetic Location: 19q13.2-q13.4, which is the long (q) arm of chromosome 19 between positions 13.2 and 13.4

Molecular Location: base pairs 18,153,178 to 18,170,533 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.2-q13.4, which is the long (q) arm of chromosome 19 between positions 13.2 and 13.4
  • MPPH
  • MPPH1
  • p85
  • p85-BETA
  • P85B