PIK3C2G
Description
The PIK3C2G (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma) is a protein-coding gene located on chromosome 12.
Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide is an enzyme encoded by the PIK3C2G gene in humans. This protein belongs to the phosphoinositide 3-kinase (PI3K) family, which is involved in signaling pathways regulating cell proliferation, oncogenic transformation, cell survival, migration, and intracellular protein trafficking. The protein contains a lipid kinase catalytic domain and a C-terminal C2 domain, characteristic of class II PI3-kinases. C2 domains are calcium-dependent phospholipid binding motifs that mediate protein translocation to membranes and protein-protein interactions. The specific biological function of this gene is not yet fully understood.
Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), which act as second messengers. May play a role in SDF1A-stimulated chemotaxis.
PIK3C2G is also known as PI3K-C2-gamma, PI3K-C2GAMMA.
Associated Diseases
- glycogen storage disease VI
- obesity due to melanocortin 4 receptor deficiency
- PLIN1-related familial partial lipodystrophy
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- LIPE-related familial partial lipodystrophy
