PIP4K2C
Description
The PIP4K2C (phosphatidylinositol-5-phosphate 4-kinase type 2 gamma) is a protein-coding gene located on chromosome 12.
PIP4K2C is an enzyme encoded by the PIP4K2C gene in humans. It is one of the phosphatidylinositol 4-phosphate 5-kinases.
PIP4K2C has low enzymatic activity. It may act as a GTP sensor, demonstrating higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4K2C, along with other PIP4Ks, negatively regulates insulin signaling via a catalytic-independent mechanism. This regulation involves interaction with PIP5Ks, leading to suppression of PIP5K-mediated PtdIns(4,5)P2 synthesis and inhibition of insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).
PIP4K2C is also known as PIP5K2C.
Associated Diseases
- low grade glioma
- thyroid gland adenocarcinoma
- urinary bladder cancer
- vertebral disorder
- common variable immunodeficiency
- isolated agammaglobulinemia
- immunodeficiency 72 with autoinflammation
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
