MUC2

mucin 2, oligomeric mucus/gel-forming

Summary

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs285611111:1,075,747T/Cmissense variant—
rs37085416711:1,075,913C/T—likely benign
rs37558706111:1,078,515G/A—likely benign
rs7265289511:1,078,518G/T—likely benign
rs4150154811:1,078,538C/T—likely benign
rs37084961511:1,078,638C/T—likely benign
rs37527923311:1,078,653C/T—likely benign
rs4144204811:1,080,917C/G—likely benign
rs6173212011:1,081,090C/T—benign
rs74827011611:1,082,638C/T—likely benign
rs74651925511:1,083,188C/T—likely benign
rs739603011:1,083,364G/Aintron variant—
rs55503630711:1,083,590C/T—likely benign
rs6173212711:1,084,280C/T—likely benign
rs1124593611:1,084,362G/Amissense variant—
rs1079428811:1,084,821T/Gmissense variant—
rs1280487711:1,085,189A/Gregulatory region variant—
rs20017917211:1,086,393C/T—likely benign
rs75726177511:1,087,906G/A—likely benign
rs1090208811:1,087,972C/Tsynonymous variant—
rs710397811:1,088,815A/Tsynonymous variant—
rs37464115811:1,092,213C/T—likely benign
rs90349847911:1,092,390T/G—likely benign
rs141379367511:1,092,393C/T—likely benign
rs7549492811:1,092,420G/A—likely benign
rs11289406511:1,092,516G/T—likely benign
rs79689386711:1,092,528A/C—likely benign
rs79648879211:1,092,534C/T—likely benign
rs20160875011:1,092,618T/A—likely benign
rs75842103011:1,092,753C/T—likely benign
rs20167974411:1,092,792C/T—likely benign
rs1278676111:1,092,795T/C—likely benign
rs76707071711:1,092,798C/A—likely benign
rs74598321711:1,092,912C/A—likely benign
rs6264976111:1,092,951T/C—likely benign
rs249389128011:1,092,981C/A—likely benign
rs6172452511:1,092,996C/A—likely benign
rs148991995811:1,093,014C/G—likely benign
rs78071785011:1,093,065C/A—likely benign
rs77939131411:1,093,176A/G—likely benign
rs37445279611:1,093,230G/C—likely benign
rs5606886411:1,093,296T/C—likely benign
rs11349299711:1,093,299G/C—likely benign
rs6263724511:1,093,305C/A—likely benign
rs5589762911:1,093,341C/A—likely benign
rs56215512311:1,093,482G/A—likely benign
rs76028781611:1,093,503T/C—likely benign
rs20132495311:1,093,581C/A—likely benign
rs75725413611:1,093,590A/T—likely benign
rs130267401111:1,093,617C/A—likely benign
rs75466185411:1,093,644G/C—likely benign
rs77185256711:1,093,656C/A—likely benign
rs794472311:1,093,710C/A—likely benign
rs15048052611:1,093,899G/C—likely benign
rs76909743911:1,093,905A/G—likely benign
rs20201838611:1,093,908G/A—likely benign
rs793460611:1,093,945T/G——
rs36913191511:1,094,735C/T—likely benign
rs37065083111:1,095,255C/G—likely benign
rs77205868811:1,095,273T/C—likely benign
rs77391348511:1,096,344C/T—likely benign
rs20156786711:1,096,350G/A—likely benign
rs18378191411:1,097,226C/T—likely benign
rs76965060411:1,097,316C/T—likely benign
rs37331069911:1,099,230C/T—likely benign
rs1124595411:1,101,078A/Gmissense variant—
rs7265535211:1,102,090C/T—likely benign
rs99562027411:1,104,050G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.