CYP4F2

cytochrome P450 family 4 subfamily F member 2

Pharmacogene

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]

Known Variants64 total

rsidPosition (GRCh37)AllelesClassClinVar
rs127219:15,989,040G/C3 prime UTR variant—
rs251262449419:15,989,573T/C—likely benign
rs309320019:15,989,589G/Tmissense variantlikely benign
rs251262455019:15,989,601G/T—likely benign
rs208932239419:15,989,642T/C—uncertain significance
rs251262469819:15,989,658T/C—uncertain significance
rs15048857619:15,989,674G/A—likely benign
rs14367743019:15,989,675C/T—uncertain significance
rs36874895319:15,989,701G/A—likely benign
rs14308858119:15,989,708T/G—uncertain significance
rs402034619:15,989,730T/C—likely benign
rs13890592219:15,989,750G/C—benign
rs76450803719:15,990,211C/T—uncertain significance
rs210862219:15,990,431C/Tmissensedrug response
rs78009464319:15,990,478C/A—uncertain significance
rs14388884419:15,990,581G/A—likely benign
rs14133839519:15,990,698C/T—benign
rs251262659319:15,990,707C/A—uncertain significance
rs309316119:15,996,724C/T—benign
rs20037392719:15,996,756G/A—uncertain significance
rs14677668719:15,996,757G/A—likely benign
rs86859180719:15,996,795C/T—uncertain significance
rs207490019:15,996,820G/A—benign
rs14517423919:15,996,828G/C—benign
rs251263160319:15,996,834A/G—uncertain significance
rs75764262519:15,996,851G/A—uncertain significance
rs14481167419:15,997,081C/A—uncertain significance
rs137178372519:15,997,091C/T—uncertain significance
rs20183663419:15,997,127A/C—likely benign
rs155813919:15,997,564G/Aintron variant—
rs309315819:16,000,166C/G——
rs309315719:16,000,320A/G—likely benign
rs52934763219:16,000,357T/C—uncertain significance
rs14743438019:16,000,359G/A—likely benign
rs20048524519:16,000,388G/A—uncertain significance
rs156847232719:16,000,438T/C—uncertain significance
rs309322119:16,000,510G/T—conflicting classifications of pathogenicity
rs309315319:16,001,215C/A—benign
rs76969881319:16,003,124T/G—uncertain significance
rs75408907419:16,003,183G/A—uncertain significance
rs144970244619:16,003,187G/T—uncertain significance
rs78090670419:16,003,199G/A—uncertain significance
rs14960794819:16,003,344C/A—uncertain significance
rs14587549919:16,003,351C/T—likely benign
rs100765718419:16,003,376C/A—uncertain significance
rs117743648419:16,003,383G/A—uncertain significance
rs309313619:16,003,388G/C—benign
rs309313519:16,004,371A/Tregulatory region variant—
rs76915445519:16,006,310T/C—likely benign
rs811071419:16,006,323G/A—benign
rs37227025219:16,006,346C/A—uncertain significance
rs810096019:16,006,380T/G—benign
rs147189672119:16,006,394T/C—uncertain significance
rs309311419:16,006,413G/A—benign
rs18841858619:16,006,419C/A—likely benign
rs207490219:16,008,099T/Cintron variant—
rs86883498819:16,008,252C/T—uncertain significance
rs309310619:16,008,257C/T—benign
rs55913277719:16,008,286G/A—uncertain significance
rs13923785419:16,008,323A/G—likely benign
rs77663782519:16,008,352G/T—uncertain significance
rs11409932419:16,008,376C/G—benign
rs309310519:16,008,388A/Cmissense variant—
rs309309819:16,008,512A/Gdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.