Identity
HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8085
MIM: 602113
HGNC: 7133
Ensembl: ENSG00000167548
Variants:
dbSNP: 8085
ClinVar: 8085
TCGA: ENSG00000167548
COSMIC: KMT2D
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167548 | ENST00000301067 | O14686 |
| ENSG00000167548 | ENST00000526209 | H0YEF2 |
| ENSG00000167548 | ENST00000547610 | F8VWW4 |
| ENSG00000167548 | ENST00000650290 | A0A3B3ISC8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37921229 | 2024 | Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome. | 1 |
| 38015024 | 2024 | EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN. | 1 |
| 38206414 | 2024 | Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology. | 0 |
| 38528056 | 2024 | DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. | 1 |
| 38684298 | 2024 | [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene]. | 0 |
| 37921229 | 2024 | Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome. | 1 |
| 38015024 | 2024 | EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN. | 1 |
| 38206414 | 2024 | Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology. | 0 |
| 38528056 | 2024 | DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. | 1 |
| 38684298 | 2024 | [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene]. | 0 |
| 35189794 | 2023 | Pan-Cancer Analysis of Histone Methyltransferase KMT2D with Potential Implications for Prognosis and Immunotherapy in Human Cancer. | 7 |
| 36525973 | 2023 | KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition. | 15 |
| 36601880 | 2023 | Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer. | 4 |
| 36674608 | 2023 | Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion. | 1 |
| 36701842 | 2023 | MLL4 Regulates the Progression of Non-Small-Cell Lung Cancer by Regulating the PI3K/AKT/SOX2 Axis. | 2 |
Citation
Dessen P
KMT2D (lysine methyltransferase 2D)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41375
