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

Gene information from NCBI Gene. Variant classifications from ClinVar.