DLG2

discs large MAGUK scaffold protein 2

Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs255016548311:83,170,916A/Guncertain significance
rs255016618211:83,170,937A/Guncertain significance
rs7726203711:83,170,957T/Cbenign
rs36895951611:83,180,245C/Tuncertain significance
rs14633327711:83,182,703A/Glikely benign
rs3485735611:83,182,726G/Cuncertain significance
rs77700720111:83,182,761G/Auncertain significance
rs78120897711:83,195,189T/Cuncertain significance
rs18263292611:83,195,436G/Aintron variant
rs186477411:83,199,276C/Tintron variant
rs143564712311:83,252,873C/Auncertain significance
rs211648311:83,256,868C/Tintron variant
rs143205411:83,260,225G/Aintron variant
rs53153111:83,269,046C/Gintron variant
rs430324811:83,274,175G/C
rs50035911:83,274,485G/Aintron variant
rs68325011:83,276,168A/T
rs66773011:83,277,325T/A
rs50562111:83,277,927A/T
rs67132111:83,292,373T/Gintron variant
rs1089814011:83,300,050C/T
rs1229103311:83,332,929T/Cintron variant
rs255192083311:83,344,270G/Auncertain significance
rs388568311:83,455,707T/Cintron variant
rs254902941711:83,497,774G/Tuncertain significance
rs204003585311:83,497,777C/Guncertain significance
rs3506212811:83,497,809T/Abenign
rs91501625311:83,497,810G/Auncertain significance
rs747994911:83,503,404T/A
rs159512676211:83,544,686C/Tuncertain significance
rs125633966711:83,544,742C/Tuncertain significance
rs7680995411:83,580,306T/Cintron variant
rs254273093111:83,585,472G/Auncertain significance
rs75499379011:83,585,482G/Auncertain significance
rs20123562711:83,585,487A/Glikely benign
rs74797506711:83,585,494T/Clikely benign
rs19071580711:83,585,512C/Tlikely benign
rs79035611:83,620,787A/Gintron variant
rs77957630611:83,641,423C/Guncertain significance
rs128647536911:83,641,437C/Tuncertain significance
rs18166845911:83,641,456G/Auncertain significance
rs37140964011:83,641,490T/Cbenign
rs77140360911:83,641,522G/Auncertain significance
rs37262836711:83,673,952A/Tuncertain significance
rs53683202211:83,673,968G/Cuncertain significance
rs254662275811:83,674,033G/Cuncertain significance
rs208994300211:83,676,390T/Cuncertain significance
rs254667633811:83,676,411G/Auncertain significance
rs254667748211:83,676,451T/Guncertain significance
rs96053111:83,676,586C/Gintron variant
rs77590452211:83,691,604T/Cuncertain significance
rs254700457611:83,691,619A/Guncertain significance
rs132978546611:83,770,477G/Auncertain significance
rs76522477411:83,770,507C/Tuncertain significance
rs18867187511:83,810,055C/Alikely benign
rs75885262211:83,810,058C/Glikely benign
rs15082934211:83,818,329A/Gintron variant
rs54446587311:83,970,462C/T
rs55525556511:84,056,842T/C
rs14609443611:84,114,681G/Aintron variant
rs65548411:84,183,435T/A
rs55783200411:84,245,709T/Clikely benign
rs37417734011:84,245,714C/Tuncertain significance
rs131410978911:84,245,738G/Auncertain significance
rs77469332811:84,245,750C/Guncertain significance
rs1050156811:84,247,123A/Gintron variant
rs1050157011:84,417,846T/Cintron variant
rs18236959311:84,538,614A/Gintron variant
rs1089832011:84,613,857C/Tintron variant
rs710293411:84,648,068T/G
rs91792184411:84,742,373T/G
rs5635045811:84,764,738C/A
rs58239911:84,800,819C/Aintron variant
rs145292811:84,822,321G/Cintron variant
rs18166298511:84,822,727C/Tuncertain significance
rs7444349311:84,897,574G/Aintron variant
rs11467754411:84,933,332A/Tintron variant
rs14770409411:84,996,273T/Cbenign
rs159594025011:84,996,309T/Clikely benign
rs1714809011:85,017,476A/C
rs14574211411:85,094,809T/Cintron variant
rs1089839211:85,164,751G/A
rs712799111:85,233,733C/Tintron variant
rs57176937811:85,259,785C/T
rs53666511:85,322,400A/Gintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.