| Gene Symbol | KMT2D |
| Full Name | Lysine Methyltransferase 2D |
| Protein Type | Transferase |
| Function | KMT2D (also known as MLL4) is a histone H3K4 monomethyltransferase that functions as a transcriptional coactivator. |
| Primary Expression | the brain and plays crucial roles in neurodevelopment and synaptic function |
| Pathways | ubiquitin-proteasome |
| Ensembl ID | ENSG00000167525 |
| GeneCards | KMT2D |
| Human Protein Atlas | KMT2D |
| H3K4 Methylation | Catalyzes H3K4me1 at enhancer regions |
| Enhancer Activation | Essential for enhancer activation and super-enhancer function |
| Transcriptional Regulation | Activates gene expression through chromatin modification |
| SET Domain | Catalytic methyltransferase domain |
| PHD Finger Domains | Chromatin reading for substrate recognition |
| FYR Domains | Regulatory domains |
| Associated Diseases | Carcinoma, Inflammation, Tumor |
| Interactions | ANK3, BCL2, CACNA1G, CANCER, CDKN2A, CREB |
| KG Connections | 112 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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