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]
Transcription factors with Perturb-seq knockdown data for KMT2A. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = KMT2A upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of KMT2A, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr11:118,145,213–118,146,237 | 290.9 kb | Distal (>10kb) Multiome | 567 | |
| chr11:118,152,392–118,153,276 | 283.5 kb | Distal (>10kb) Multiome | 297 | |
| chr11:118,171,543–118,172,070 | 264.6 kb | Distal (>10kb) Multiome | 332 | |
| chr11:118,359,034–118,359,890 | 76.9 kb | Distal (>10kb) Multiome | 779 | |
| chr11:118,401,086–118,402,051 | 34.9 kb | Distal (>10kb) Multiome | 732 | |
| chr11:118,434,505–118,437,761 | 178 bp | At TSS Multiome | 1053 | |
| chr11:118,530,432–118,531,848 | 94.6 kb | Distal (>10kb) Multiome | 763 | |
| chr11:118,571,906–118,572,919 | 135.9 kb | Distal (>10kb) Multiome | 760 | |
| chr11:118,610,391–118,611,672 | 174.8 kb | Distal (>10kb) Multiome | 488 | |
| chr11:118,620,694–118,621,880 | 184.9 kb | Distal (>10kb) Multiome | 683 | |
| chr11:118,634,418–118,635,567 | 198.6 kb | Distal (>10kb) Multiome | 475 | |
| chr11:118,659,166–118,660,029 | 223.2 kb | Distal (>10kb) Multiome | 459 | |
| chr11:118,689,268–118,690,813 | 253.7 kb | Distal (>10kb) Multiome | 804 | |
| chr11:118,714,768–118,715,435 | 278.4 kb | Distal (>10kb) Multiome | 87 | |
| chr11:118,715,577–118,717,605 | 280.8 kb | Distal (>10kb) Multiome | 445 |
Genomic view of the KMT2A locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.