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/Auncertain significance
rs15778100103:185,369,900T/Alikely benign
rs12386519313:185,375,154T/Auncertain significance
rs7588522863:185,376,190G/Auncertain significance
rs1845203823:185,390,348G/Auncertain significance
rs7489207103:185,390,358G/Auncertain significance
rs7718482483:185,390,367G/Auncertain significance
rs7667698533:185,390,391C/Tuncertain significance
rs1406691053:185,390,423C/Tuncertain significance
rs3746232353:185,390,448T/Auncertain significance
rs10317763293:185,393,140T/Clikely benign
rs7758580803:185,393,586T/Cuncertain significance
rs25293071443:185,407,149T/Cuncertain significance
rs2004749323:185,407,290C/Tuncertain significance
rs1827995623:185,407,332G/Auncertain significance
rs1432528123:185,407,359T/Cuncertain significance
rs15779790433:185,407,378A/Guncertain significance
rs12303549173:185,410,527C/Tuncertain 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/Tuncertain significance
rs117057013:185,544,309G/Aregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.