KMT2A

lysine methyltransferase 2A

Summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Known Variants2,272 total

rsidPosition (GRCh37)AllelesClassClinVar
rs933274411:118,306,880C/T—likely benign
rs249709534111:118,307,228A/T—uncertain significance
rs133627428411:118,307,241G/C—uncertain significance
rs213415198011:118,307,253T/G—likely pathogenic
rs78220724311:118,307,254C/A—uncertain significance
rs213415203011:118,307,258G/A—uncertain significance
rs194918383011:118,307,275C/T—likely benign
rs136715233111:118,307,281C/T—likely benign
rs130521595411:118,307,285G/A—uncertain significance
rs194918450011:118,307,290C/T—likely benign
rs155513848711:118,307,292G/C—uncertain significance
rs78234565411:118,307,296G/A—likely benign
rs78197385211:118,307,305C/A—likely benign
rs78211371011:118,307,309G/T—uncertain significance
rs116151946811:118,307,312G/T—uncertain significance
rs933274511:118,307,316C/T—uncertain significance
rs194918508011:118,307,320G/A—likely benign
rs249709721911:118,307,321C/A—likely benign
rs213415256711:118,307,330G/A—uncertain significance
rs148229359811:118,307,332C/T—likely benign
rs122185653911:118,307,334C/T—uncertain significance
rs122493471211:118,307,348C/T—uncertain significance
rs155513851611:118,307,349C/G—uncertain significance
rs122645072811:118,307,352C/T—uncertain significance
rs127515984011:118,307,354G/A—uncertain significance
rs194918623811:118,307,355G/A—uncertain significance
rs194918630411:118,307,356G/C—likely benign
rs143752612811:118,307,357C/A—uncertain significance
rs249709814911:118,307,358C/A—uncertain significance
rs194918652411:118,307,359C/A—likely benign
rs194918658111:118,307,360C/T—uncertain significance
rs213415287611:118,307,361C/G—uncertain significance
rs933274611:118,307,362G/A—likely benign
rs213415293311:118,307,364T/C—benign
rs113169136511:118,307,366G/C—likely pathogenic
rs249709835511:118,307,367G/A—uncertain significance
rs194918689311:118,307,373G/A—uncertain significance
rs140250491311:118,307,374C/T—benign
rs194918702011:118,307,375G/A—uncertain significance
rs138941303811:118,307,376G/A—uncertain significance
rs194918714811:118,307,379C/G—uncertain significance
rs115911482911:118,307,380C/G—likely benign
rs213415313211:118,307,381G/C—uncertain significance
rs933274711:118,307,385C/T—likely benign
rs194918734811:118,307,386G/T—likely benign
rs143192130711:118,307,387C/G—uncertain significance
rs194918770411:118,307,392C/G—likely benign
rs194918790811:118,307,394C/A—uncertain significance
rs147751415211:118,307,395C/T—likely benign
rs155513855811:118,307,398C/A—likely benign
rs121743137511:118,307,399C/T—uncertain significance
rs126685791011:118,307,400C/T—uncertain significance
rs194918867111:118,307,403C/G—uncertain significance
rs194918873311:118,307,404T/G—likely benign
rs155513856611:118,307,407G/C—likely benign
rs78269975511:118,307,411G/A—uncertain significance
rs121839829011:118,307,413C/G—likely benign
rs78207738311:118,307,416G/C—likely benign
rs78274121511:118,307,419G/A—likely benign
rs213415370511:118,307,430G/A—uncertain significance
rs194919010511:118,307,434C/T—likely benign
rs213415376111:118,307,435A/G—uncertain significance
rs117730917011:118,307,436G/C—uncertain significance
rs78179812611:118,307,437C/T—likely benign
rs142345384611:118,307,438G/C—uncertain significance
rs78246381111:118,307,439G/C—uncertain significance
rs78223378711:118,307,445G/A—likely benign
rs194919096611:118,307,453G/T—uncertain significance
rs53379502711:118,307,454G/C—likely benign
rs155513864411:118,307,456G/A—uncertain significance
rs78265370611:118,307,457G/A—uncertain significance
rs78191708611:118,307,464C/T—likely benign
rs78219101911:118,307,465G/C—uncertain significance
rs249710122111:118,307,467C/G—likely benign
rs155513866011:118,307,468G/T—uncertain significance
rs155513868311:118,307,483T/C—uncertain significance
rs134312483511:118,307,484C/T—uncertain significance
rs86899179311:118,307,487C/T—conflicting classifications of pathogenicity
rs249710173411:118,307,491C/T—likely benign
rs155513870111:118,307,492G/A—uncertain significance
rs249710177311:118,307,493C/T—uncertain significance
rs155513870811:118,307,496C/A—pathogenic
rs213415436311:118,307,499C/T—uncertain significance
rs78211252011:118,307,502C/T—uncertain significance
rs249710198411:118,307,505C/G—uncertain significance
rs194919313211:118,307,509G/A—likely benign
rs213415443211:118,307,512A/G—likely benign
rs20115586511:118,307,514C/G—uncertain significance
rs249710227111:118,307,516T/C—uncertain significance
rs78271349211:118,307,517C/T—uncertain significance
rs213415448311:118,307,518C/G—likely benign
rs155513875011:118,307,527T/C—likely benign
rs78276862411:118,307,530A/C—likely benign
rs78187615611:118,307,531G/A—uncertain significance
rs78254144711:118,307,536G/A—likely benign
rs194919418611:118,307,540C/T—likely benign
rs100622048511:118,307,546C/T—uncertain significance
rs78245986511:118,307,548G/A—likely benign
rs148220255211:118,307,549G/C—uncertain significance
rs78259390211:118,307,555C/T—uncertain significance

Showing 100 of 2,272 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.