The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Transcription factors with Perturb-seq knockdown data for KMT2D. 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 = KMT2D 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 KMT2D, 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 |
|---|---|---|---|---|
| chr12:48,788,600–48,789,901 | 271.5 kb | Distal (>10kb) Multiome | 478 | |
| chr12:48,795,703–48,796,330 | 264.8 kb | Distal (>10kb) Multiome | 333 | |
| chr12:48,814,087–48,815,981 | 246.0 kb | Distal (>10kb) Multiome | 815 | |
| chr12:48,817,927–48,819,273 | 242.3 kb | Distal (>10kb) Multiome | 459 | |
| chr12:48,851,862–48,852,825 | 208.6 kb | Distal (>10kb) Multiome | 900 | |
| chr12:48,864,974–48,866,292 | 194.9 kb | Distal (>10kb) Multiome | 649 | |
| chr12:48,883,231–48,884,168 | 177.0 kb | Distal (>10kb) Multiome | 433 | |
| chr12:48,890,671–48,891,380 | 169.9 kb | Distal (>10kb) Multiome | 517 | |
| chr12:48,924,659–48,925,688 | 135.9 kb | Distal (>10kb) Multiome | 413 | |
| chr12:48,956,252–48,957,974 | 104.3 kb | Distal (>10kb) Multiome | 831 | |
| chr12:48,978,055–48,978,819 | 82.5 kb | Distal (>10kb) Multiome | 360 | |
| chr12:48,980,647–48,981,153 | 79.9 kb | Distal (>10kb) Multiome | 259 | |
| chr12:48,997,612–48,998,829 | 62.5 kb | Distal (>10kb) Multiome | 620 | |
| chr12:49,018,007–49,019,184 | 42.1 kb | Distal (>10kb) Multiome | 899 | |
| chr12:49,059,883–49,061,347 | 12 bp | At TSS Multiome | 1060 | |
| chr12:49,064,018–49,064,219 | 3.2 kb | Proximal (<10kb) | 249 | |
| chr12:49,069,381–49,070,589 | 9.2 kb | Proximal (<10kb) Multiome | 804 | |
| chr12:49,088,153–49,088,744 | 27.6 kb | Distal (>10kb) Multiome HiCAR | 473 | |
| chr12:49,109,990–49,111,248 | 50.1 kb | Distal (>10kb) Multiome HiCAR | 693 | |
| chr12:49,129,851–49,132,062 | 69.5 kb | Distal (>10kb) Multiome HiCAR | 1233 | |
| chr12:49,188,266–49,189,371 | 128.3 kb | Distal (>10kb) Multiome | 676 | |
| chr12:49,228,702–49,229,259 | 168.1 kb | Distal (>10kb) Multiome | 64 | |
| chr12:49,234,459–49,235,140 | 173.9 kb | Distal (>10kb) Multiome | 786 | |
| chr12:49,264,393–49,265,769 | 204.2 kb | Distal (>10kb) Multiome | 1032 | |
| chr12:49,297,237–49,297,902 | 236.8 kb | Distal (>10kb) Multiome | 330 | |
| chr12:49,322,593–49,323,536 | 262.3 kb | Distal (>10kb) Multiome | 647 | |
| chr12:49,336,785–49,337,369 | 276.4 kb | Distal (>10kb) Multiome | 482 | |
| chr12:49,341,800–49,343,265 | 281.8 kb | Distal (>10kb) Multiome | 631 | |
| chr12:49,347,124–49,348,156 | 287.0 kb | Distal (>10kb) Multiome | 790 |
Genomic view of the KMT2D 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.