LPCAT2

lysophosphatidylcholine acyltransferase 2

Summary

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]

Known Variants25 total

rsidPosition (GRCh37)AllelesClassClinVar
rs214238313516:55,543,145G/C—uncertain significance
rs156739080916:55,553,232G/A—pathogenic
rs6174447416:55,559,513G/A—benign
rs19981024816:55,562,324G/A—likely benign
rs254358018516:55,562,357C/T—uncertain significance
rs6173997916:55,562,359G/A—benign
rs115903191916:55,562,368A/C—uncertain significance
rs142965280716:55,562,477A/G—uncertain significance
rs77780770416:55,563,770G/C—uncertain significance
rs76823396316:55,563,818G/A—uncertain significance
rs1695534316:55,566,309C/Tintron variant—
rs145085243916:55,571,503A/G—likely benign
rs77329955016:55,571,538A/C—uncertain significance
rs156739920816:55,579,657T/C—uncertain significance
rs14144961516:55,579,714G/A—uncertain significance
rs36847227916:55,579,719T/G—likely benign
rs76271613316:55,584,907A/G—uncertain significance
rs74755519816:55,584,972T/C—likely benign
rs11725093516:55,588,344C/Tintron variant—
rs20025720216:55,601,165C/Amissense variant—
rs649976616:55,604,128A/Tdownstream gene variant—
rs74537560216:55,608,568G/A—uncertain significance
rs76265804316:55,608,588G/A—uncertain significance
rs14209066916:55,613,052C/T—benign
rs75584235116:55,616,948G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.