| 简介 | The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
Diseases associated with PIK3C2A include Oculoskeletodental Syndrome and Oculocerebrodental Syndrome. Among its related pathways are PI Metabolism and NF-kappaB Pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is PIK3C2B.
Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers.
Has a role in several intracellular trafficking events.
Functions in insulin signaling and secretion.
Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation.
Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion.
Synthesizes PtdIns3P in response to insulin signaling.
Functions in clathrin-coated endocytic vesicle formation and distribution.
Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles.
In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles.
Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1.
May play a role in the EGF signaling cascade.
May be involved in mitosis and UV-induced damage response.
Required for maintenance of normal renal structure and function by supporting normal podocyte function.
Involved in the regulation of ciliogenesis and trafficking of ciliary components (PubMed:31034465).
Activated by insulin (By similarity).
Only slightly inhibited by wortmannin and LY294002.
Activated by clathrin.
Cell membrane {ECO:0000269 PubMed:10766823, 11239472, 17038310}5
Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269 PubMed:10766823, 11239472}
Nucleus {ECO:0000269 PubMed:11606566}5
Cytoplasm {ECO:0000269 PubMed:11606566, 14563213}5
Golgi apparatus, trans-Golgi network {ECO:0000269 PubMed:10766823, 11239472}5
Note: Inserts preferentially into membranes containing PtdIns(4,5)P2 (PubMed:17038310). Associated with RNA-containing structures (PubMed:11606566) {ECO:0000269 PubMed:11606566, 17038310}
Quaternary structure:
Part of a complex with ERBB2 and EGFR (PubMed:10805725).
Interacts with clathrin trimers (PubMed:11239472, 16215232).
Interacts with SBF2/MTMR13 (By similarity). |
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