IGF2BP2

insulin like growth factor 2 mRNA binding protein 2

Summary

This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]

Known Variants47 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7586899473:185,363,402G/A—uncertain significance
rs15778100103:185,369,900T/A—likely benign
rs12386519313:185,375,154T/A—uncertain significance
rs7588522863:185,376,190G/A—uncertain significance
rs1845203823:185,390,348G/A—uncertain significance
rs7489207103:185,390,358G/A—uncertain significance
rs7718482483:185,390,367G/A—uncertain significance
rs7667698533:185,390,391C/T—uncertain significance
rs1406691053:185,390,423C/T—uncertain significance
rs3746232353:185,390,448T/A—uncertain significance
rs10317763293:185,393,140T/C—likely benign
rs7758580803:185,393,586T/C—uncertain significance
rs25293071443:185,407,149T/C—uncertain significance
rs2004749323:185,407,290C/T—uncertain significance
rs1827995623:185,407,332G/A—uncertain significance
rs1432528123:185,407,359T/C—uncertain significance
rs15779790433:185,407,378A/G—uncertain significance
rs12303549173:185,410,527C/T—uncertain significance
rs1807438753:185,433,439C/Tintron variant—
rs1469983693:185,489,834C/Aupstream gene variant—
rs130928763:185,495,320G/Aintron variant—
rs68018483:185,499,057C/Gintron variant—
rs67801713:185,503,456T/Aintron variant—
rs44148873:185,506,892C/Tintron variant—
rs117057293:185,507,299A/C——
rs119273813:185,508,591T/Cintron variant—
rs44029603:185,511,687G/Tintron variantrisk factor
rs1893234303:185,512,898G/Aintron variant—
rs76405393:185,513,296T/Aintron variant—
rs98089243:185,514,189G/Aintron variant—
rs1501110483:185,514,421A/Gregulatory region variant—
rs76377733:185,515,635G/Aintron variant—
rs46866963:185,516,520G/Aregulatory region variant—
rs788390533:185,516,602G/Cintron variant—
rs730610953:185,516,807T/Gintron variant—
rs713203213:185,519,107G/Aintron variant—
rs98547693:185,520,948A/Gintron variant—
rs347822983:185,520,996G/Aintron variant—
rs76150453:185,521,126A/Gintron variant—
rs76305543:185,526,062A/Gregulatory region variant—
rs117114773:185,526,690T/Aintron variant—
rs14705793:185,529,080A/Cintron variant—
rs67695113:185,530,290T/Cintron variant—
rs13749103:185,531,661C/Tregulatory region variant—
rs730630103:185,538,006A/Gregulatory region variant—
rs7641799053:185,542,703C/T—uncertain significance
rs117057013:185,544,309G/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.