DISEASES

Disease-gene associations mined from literature

Literature associating PI4K2B and early infantile epileptic encephalopathy 53

PI4K2B [ENSP00000264864]

Phosphatidylinositol 4-kinase type II-beta; Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the regulation of vesicular trafficking; Minor histocompatibility antigens

Synonyms:  PI4K2B,  PI4K2Bp,  hPI4K2B,  SEPSECS-AS1,  G5E9Z4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM