ICE2

interactor of little elongation complex ELL subunit 2

Summary

This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]

Known Variants72 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53694792915:60,714,768G/A
rs3429383915:60,715,248A/Gregulatory region variant
rs104665715:60,715,800T/A
rs250540118515:60,715,859C/Tuncertain significance
rs19972729615:60,715,908T/Clikely benign
rs76735651915:60,715,961T/Auncertain significance
rs206338534815:60,720,686T/Cuncertain significance
rs75957397215:60,720,702G/Auncertain significance
rs11709529315:60,720,819A/Clikely benign
rs75461959515:60,720,872G/Tuncertain significance
rs7916723715:60,724,151A/Guncertain significance
rs77381845115:60,724,155G/Tuncertain significance
rs37528067915:60,724,193A/Glikely benign
rs106310015:60,734,697A/Gbenign
rs18416397515:60,739,642A/Gintron variant
rs14939648615:60,740,208C/Guncertain significance
rs76987741015:60,740,231G/Tuncertain significance
rs55902799715:60,741,083A/Cuncertain significance
rs36839191715:60,741,087C/Tlikely benign
rs54468756715:60,741,112C/Tuncertain significance
rs76857436115:60,741,151T/Cuncertain significance
rs20040334415:60,741,233C/Guncertain significance
rs13904642915:60,741,263T/Cuncertain significance
rs123340786015:60,741,305T/Cuncertain significance
rs250556898315:60,741,331T/Cuncertain significance
rs77157227315:60,741,415C/Tuncertain significance
rs141518606215:60,741,424T/Guncertain significance
rs250557009515:60,741,435A/Cuncertain significance
rs76352426815:60,741,452C/Tuncertain significance
rs11485235215:60,741,467C/Tbenign
rs159577818815:60,741,510C/Tlikely benign
rs250557208515:60,741,634G/Cuncertain significance
rs206390675415:60,741,651A/Glikely benign
rs54245319015:60,741,684C/Guncertain significance
rs14327150615:60,741,703C/Tlikely benign
rs18650909315:60,741,765C/Tlikely benign
rs56714147215:60,741,817G/Tuncertain significance
rs206391343415:60,741,844G/Auncertain significance
rs20081809115:60,741,901G/Tuncertain significance
rs77331260515:60,741,913C/Tuncertain significance
rs76607614715:60,741,924T/Clikely benign
rs13932671015:60,741,931T/Cuncertain significance
rs37269369615:60,741,932T/Cuncertain significance
rs11798061315:60,742,029T/Cbenign
rs19956007215:60,745,789A/Clikely benign
rs250560779715:60,745,974G/Auncertain significance
rs99966104315:60,746,659G/Cuncertain significance
rs37684001215:60,747,229C/Guncertain significance
rs130388868815:60,747,318T/Cuncertain significance
rs74589900215:60,747,524C/Guncertain significance
rs77203610415:60,747,530G/Auncertain significance
rs15119620615:60,747,540A/Glikely benign
rs4137214615:60,747,546T/Abenign
rs75842809715:60,747,559T/Guncertain significance
rs36754742215:60,748,867G/Auncertain significance
rs250563461515:60,748,903A/Tuncertain significance
rs53893750715:60,749,443C/T
rs76199192415:60,758,806C/Tuncertain significance
rs76550149115:60,758,807G/Auncertain significance
rs94916482115:60,758,833T/Auncertain significance
rs14537348415:60,758,892G/Abenign
rs14146923515:60,758,905T/Clikely benign
rs77442271115:60,760,267T/Cuncertain significance
rs76046994115:60,760,414A/Guncertain significance
rs20214461315:60,760,427T/Cuncertain significance
rs6200326115:60,761,489T/Cintron variant
rs76305003415:60,768,268G/Auncertain significance
rs36810595515:60,768,278G/Alikely benign
rs250576345515:60,770,126T/Alikely benign
rs13835531215:60,770,145C/Tuncertain significance
rs78119385315:60,770,158T/Cuncertain significance
rs250576378015:60,770,164T/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.