| GENE NAME | KMT2D |
| CHROMOSOME | 12 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000167548 |
| UNIPROT ACCESSION NUMBER | O14686 |
| GO MOLECULAR FUNCTION | ['DNA binding', 'histone binding', 'protein binding', 'transcription cis-regulatory region binding', 'transcription coactivator activity', 'histone methyltransferase activity (H3-K4 specific)', 'metal ion binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa00310; hsa01100; hsa04934; R-HSA-1266738; R-HSA-162582; R-HSA-195721; R-HSA-201681; R-HSA-201722; R-HSA-212436; R-HSA-3214841; R-HSA-3247509; R-HSA-3769402; R-HSA-4839726; R-HSA-5617472; R-HSA-5619507; R-HSA-73857; R-HSA-74160; R-HSA-8878171; R-HSA-8936459 |
| 5 combinations linked to KMT2D | OLI1058; OLI1607; OLI1609; OLI1608; OLI1720 |
| 5 variants linked to KMT2D | KMT2D:c.10876C>T, p.Arg3626Trp; KMT2D:c.13951C>T, p.His4651Tyr; KMT2D:c.8774C>T, p.Ala2925Val; KMT2D:c.10256A>G, p.Asp3419Gly; KMT2D:p.Thr245Ser |
| 3 diseases linked to KMT2D | Congenital hypothyroidism; Primary ovarian failure; Common variable immunodeficiency |