Recombinant Human Histone-lysine N-methyltransferase 2D (KMT2D), partial

1. Clinical and neurobehavioral features of three novel Kabuki Syndrome unrelated patients with mosaic KMT2D mutations have been described. PMID: 29283410
2. Results indicate that overexpression of MLL2 predicts poor clinical outcomes and facilitates ESCC tumor progression, and it may exert oncogenic role via activation of EMT. PMID: 29532228
3. results reveal a critical role for KMT2D in the control of epithelial enhancers and p63 target gene expression, including the requirement of KMT2D for the maintenance of epithelial progenitor gene expression and the coordination of proper terminal differentiation. PMID: 29440247
4. a congenital heart defects (CHD)is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. PMID: 28884922
5. analysis of highly recurrent genetic lesions in components of the NF-kappaB pathway, of NOTCH1 and NOTCH2 as well as KMT2D that may have a role in ocular adnexal MALT-type marginal zone lymphomas PMID: 27566587
6. Results highlight the emerging role of mutations in epigenetic regulators, particularly MLL2, in cervical carcinogenesis, which suggests a potential disruption of histone modifications. PMID: 28390392
7. Mutations of ARID1A, GPRC5A and MLL2 grant bladder cancer non-stem cells the capability of self-renewal. PMID: 27387124
8. Study reports mutation screening in patients with Kabuki Syndrome Subtype 2 (KS2), in which 12 novel KDM6A mutations are identified. These results confirm that female patients with KS2 may have a rather mild manifestation of KS and may even develop normally with regard to cognitive function. PMID: 27302555
9. The uniqueness of our case is the sporadic co-occurrence of two genetic disorders, that is, a de novo frameshift variant in the KMT2D gene and a de novo 3.2 Mbp 10q22.3q23.1 deletion. PMID: 28590022
10. KMT2D mutation is associated with small Cell Lung Cancer. PMID: 28007623
11. Two patients' presentation of Kabuki syndrome has been described caused by different KMT2D mutations, both including an interrupted/bipartite clavicle. PMID: 28256057
12. data support akey role forKMT2D in modulating the chromatin competence necessary for the assembly of the ER-FOXA1-PBX1 transcriptional regulatory network in breast cancer. PMID: 28336670
13. A possible correlation between the position of the KMT2D premature termination codon caused by the mutation and height SDS was assessed, but a significant difference could not be observed for the Kabuki syndrome patients PMID: 27530205
14. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions. PMID: 27991736
15. Three of four cases of histiocytic sarcoma had alterations in the KMT2D gene. PMID: 28805986
16. Study shows the contribution of MLL2's methyltransferase and CXXC domain in the trimethylation of H3K4 in embryonic stem cells and find that while it trimethylates H3K4 at both bivalent gene promoters and non-TSS elements, it regulates transcription at a limited number of genes including those required for primordial germ cell specification. PMID: 28157506
17. KMT2D Mutation is associated with esophageal squamous cell carcinoma. PMID: 27749841
18. MLL1 and MLL2 collaborate to regulate gene expression and leukemia maintenance not through redundancy, but through distinct pathways. PMID: 28609655
19. Our findings provide evidence that CHARGE and Kabuki syndromes result from dysregulatrion of CHD7 and KMT2D genes involved embryonal development that are expressed in a tissue-specific manner. PMID: 28475860
20. we demonstrate that low KMT2C and KMT2D expression in biopsies defines better outcome groups in pancreatic ductal adenocarcinoma PMID: 27280393
21. We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings PMID: 27632392
22. The enzymatic activity of H3K4 methyltransferase MLL4 is required for its protein stability. PMID: 28013028
23. We have reported a female Kabuki syndrome patient with typical dysmorphic features and developmental delay and a novel KMT2D mutation. PMID: 25944076
24. Pygo2 functions as a prognostic factor for glioma due to its up-regulation of H3K4me3 and promotion of MLL1/MLL2 complex recruitment. PMID: 26902498
25. Mutation in the MLL2 gene is associated with Kabuki Syndrome. PMID: 26757828
26. Data suggest that lysine methyltransferase 2D (KMT2D) mutations are rare in abdominal paraganglioma (PGLs). PMID: 26303934
27. high proportion of recurrent somatic DICER1 and KMT2D mutations in this series of sporadic IO-MEPL points to their likely important roles in the molecular pathogenesis of these rare embryonal tumors PMID: 26841698
28. Whereas Set1 targets are largely associated with the maintenance of the stem cell population, MLL1/2 targets are specifically enriched for genes involved in ciliogenesis. PMID: 26711341
29. Although enhancer priming by MLL4/KMT2D is dispensable for cell-identity maintenance in mouse, it controls cell fate transition by orchestrating p300-mediated enhancer activation PMID: 27698142
30. Our data suggest that MLL2 protein is overexpressed in primary gastrointestinal diffuse large B cell lymphoma and appears as a prognostic factor PMID: 26722499
31. The results do not support our hypothesis that common germline genetic variants in the MLL2 genes is associated with the risk of developing medulloblastoma. PMID: 26290144
32. Mutations in KMT2D gene is associated with cutaneous T cell lymphoma and Sezary syndrome. PMID: 26551667
33. In patients with Kabuki Syndrome, autosomal dominant KMT2D mutations are associated with dysregulation of terminal B-cell differentiation, leading to humoral immune deficiency and, in some cases, autoimmunity. PMID: 26194542
34. KMT2D represents a recurrently mutated gene with potential implication for pheochromocytoma development. PMID: 26032282
35. Identify MLL4 as a major mammalian H3K4 mono- and di-methyltransferase essential for enhancer activation during cell differentiation. PMID: 24368734
36. Like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery. PMID: 24705355
37. KMT2D mutations may promote malignant outgrowth by perturbing the expression of tumor suppressor genes that control B cell-activating pathways PMID: 26366710
38. findings suggest that KMT2D acts as a tumor suppressor gene whose early loss facilitates lymphomagenesis by remodeling the epigenetic landscape of the cancer precursor cells PMID: 26366712
39. Reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. PMID: 25112956
40. Mutations in MLL2 are present in approximately 27% of urothelial carcinoma cases . PMID: 26138514
41. Results from targeted sequencing in patients with acute lymphoblastic leukemia identified KMT2D and KIF1B as novel putative driver genes and a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK. PMID: 25355294
42. 10 out of the 11 mutations found in patients with Kabuki syndrome were novel. KMT2D mutations included four small deletions or insertions and four nonsense and two missense mutations. PMID: 24739679
43. Data identified mutations in epigenetic modifiers such as KMT2D as potential early driving events in lymphomagenesis and immune escape alterations as relapse-associated events in diffuse large B-cell lymphoma. PMID: 25123191
44. MLL2 mutation positive patients have a more severe and typical Kabuki phenotype than the MLL2 mutation negative group. PMID: 23320472
45. Study supports that KMT2D has distinct roles in neoplastic cells, as opposed to normal cells. PMID: 24240169
46. MLL3 and MLL4 function in the regulation of enhancer activity. PMID: 24081332
47. The identification of novel MLL2 mutations in patients with Kabuki syndrome. PMID: 23913813
48. these results indicate that the suppression of MLL genes, especially MLL2 and MLL5, take part in modulating breast carcinogenesis. PMID: 23754336
49. Data indicate that seven genes showed statistical enrichment for mutation: TP53, RB1, PTEN, NFE2L2, KEAP1, MLL2, and PIK3CA. PMID: 24323028
50. MLL4 (KMT2D) is a major H3K4 mono- and di-methyltransferase with partial functional redundancy with MLL3 (KMT2C) in mouse and human cells. MLL4 is enriched on enhancers and is required for enhancer activation, cell-type-specific gene expression and cell differentiation. PMID: 24368734

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HGNC: 7133

OMIM: 147920

KEGG: hsa:8085

STRING: 9606.ENSP00000301067

UniGene: Hs.731384