GPX4

glutathione peroxidase 4

Summary

The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]

Known Variants148 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75722819:1,101,992A/T——
rs75722919:1,102,114G/A——
rs1752626419:1,103,768A/T—benign
rs810355119:1,103,782A/G—benign
rs1755493119:1,103,785C/T—benign
rs817896519:1,103,865C/T—likely benign
rs817896619:1,103,971C/T—likely benign
rs105301781019:1,104,037G/A—likely benign
rs77225107719:1,104,052G/T—uncertain significance
rs480754219:1,104,078G/Asynonymous variantbenign
rs77407621219:1,104,103G/A—uncertain significance
rs207962096919:1,104,115G/C—uncertain significance
rs207445019:1,104,438G/C—benign
rs56692886219:1,104,527C/G—benign
rs5756316319:1,104,563G/T—benign
rs11144596619:1,104,745G/T—likely benign
rs128769893619:1,104,752G/A—uncertain significance
rs91906053819:1,104,756C/T—uncertain significance
rs93047944919:1,104,758C/T—uncertain significance
rs159980738719:1,104,759C/T—uncertain significance
rs104894113019:1,104,760C/T—likely benign
rs88904214119:1,104,765G/A—uncertain significance
rs75589487419:1,104,777G/C—uncertain significance
rs104046771019:1,104,782C/T—pathogenic
rs251269014619:1,104,784G/T—uncertain significance
rs78017842519:1,104,835G/A—likely benign
rs251269030419:1,104,843G/C—uncertain significance
rs101176630419:1,104,844C/A—likely benign
rs76892502219:1,104,852C/A—uncertain significance
rs142272752819:1,104,861G/A—uncertain significance
rs37189233319:1,104,864G/A—conflicting classifications of pathogenicity
rs77048782919:1,104,871G/A—likely benign
rs11719362919:1,104,874C/T—benign
rs77171795519:1,104,878C/T—uncertain significance
rs36889708019:1,104,891G/T—uncertain significance
rs19951552019:1,104,901C/G—conflicting classifications of pathogenicity
rs130738767719:1,104,903A/G—uncertain significance
rs37709117419:1,104,904C/G—likely benign
rs138836147019:1,104,905G/C—uncertain significance
rs75843618319:1,104,925C/T—likely benign
rs251269055519:1,104,927C/T—uncertain significance
rs57437565219:1,104,935G/C—benign
rs214516635619:1,105,171C/T—likely benign
rs207963232719:1,105,176G/C—likely benign
rs125907474719:1,105,181G/A—likely benign
rs168650506419:1,105,184G/A—likely pathogenic
rs136765303019:1,105,193C/G—likely benign
rs75523508719:1,105,194C/T—uncertain significance
rs74976654519:1,105,206C/T—uncertain significance
rs132935227219:1,105,216G/A—uncertain significance
rs104540825819:1,105,225A/G—uncertain significance
rs37237000219:1,105,235C/T—likely benign
rs127411366119:1,105,251G/A—uncertain significance
rs76279209219:1,105,257A/G—uncertain significance
rs214516664519:1,105,267T/C—uncertain significance
rs75317915219:1,105,287C/T—likely benign
rs75450465019:1,105,294G/A—likely benign
rs817897019:1,105,310T/C—benign
rs76561170919:1,105,347C/T—likely benign
rs37353336519:1,105,358C/T—likely benign
rs77751828819:1,105,360C/G—likely benign
rs817897119:1,105,362C/A—uncertain significance
rs77077562519:1,105,366G/A—uncertain significance
rs37643278019:1,105,383C/T—likely benign
rs77219856119:1,105,384A/C—uncertain significance
rs20190329119:1,105,385C/G—uncertain significance
rs37423867519:1,105,386C/G—likely benign
rs75085359419:1,105,413C/T—likely benign
rs19974357519:1,105,434C/T—likely benign
rs77723604619:1,105,435G/A—uncertain significance
rs37600717719:1,105,438G/C—uncertain significance
rs57503968219:1,105,449C/T—benign
rs76996724619:1,105,455C/Astop gainedpathogenic
rs37434956219:1,105,472G/A—uncertain significance
rs36756450419:1,105,487C/G—uncertain significance
rs78131806119:1,105,492A/G—uncertain significance
rs56382378419:1,105,514G/A—uncertain significance
rs36849676019:1,105,520G/C—likely benign
rs54357587819:1,105,521C/A—benign
rs817897219:1,105,524C/T—likely benign
rs159980919219:1,105,643C/T—likely benign
rs136289651419:1,105,647G/A—likely benign
rs251269307319:1,105,652C/T—likely benign
rs207964118219:1,105,665G/A—likely benign
rs20029140719:1,105,668T/A—uncertain significance
rs19978719919:1,105,672G/A—conflicting classifications of pathogenicity
rs7620114519:1,105,690G/A—uncertain significance
rs53182486719:1,105,691C/T—uncertain significance
rs37609276419:1,105,696G/T—uncertain significance
rs104286319:1,105,698C/A—likely benign
rs20149020619:1,105,715A/G—uncertain significance
rs77914138819:1,105,717A/G—uncertain significance
rs7350725519:1,105,723A/G—benign
rs91966340419:1,105,728G/C—uncertain significance
rs74742359919:1,105,731C/T—likely benign
rs76925090419:1,105,734C/T—benign
rs37246406319:1,105,740C/T—likely benign
rs74875813919:1,105,741G/A—uncertain significance
rs77398571419:1,105,743G/C—likely benign
rs37552371519:1,105,746C/G—uncertain significance

Showing 100 of 148 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.