Membrane-associated phosphatidylinositol transfer protein 2 (PITPNM2)

Membrane-associated phosphatidylinositol transfer protein 2 (PITPNM2) is a member of the Class IIA phosphatidylinositol transfer proteins, homologous to the Drosophila retinal degeneration B (rdgB) protein, and is involved in the transfer of phosphatidylinositol and phosphatidylcholine between cell membranes[7][5]. PITPNM2 contains several domains, including a phosphatidylinositol transfer domain, and additional motifs aiding in its subcellular localization. It regulates the turnover of phosphoinositides and plays roles in signaling pathways dependent on phospholipase C activation, essential for lipid signaling and potentially for functions such as photoreceptor activity and neuronal physiology[1][5][7]. Downregulation or deficiency of PITPNM2 is linked to diseases such as retinal degeneration, cone-rod dystrophy, and is implicated as a risk factor in immune-mediated diseases like multiple sclerosis[7][1]. Its expression is noted in various human tissues, with particularly high expression in the retina and thymus[1]. There is also emerging evidence for involvement in some cancers through regulation of cell migration and signaling pathways[1].

Other names

KIAA1457NIR3PITPnm 2NIR-3RDGBA2RDGB2Phosphatidylinositol transfer protein, membrane-associated 2Pyk2 N-terminal domain-interacting receptor 3retinal degeneration B alpha 2