Identity
HGNC
LOCATION
7q22.3
LOCUSID
ALIAS
HDCMC04P,MLL5,NKp44L,ODLURO
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: 55904
MIM: 608444
HGNC: 18541
Ensembl: ENSG00000005483
Variants:
dbSNP: 55904
ClinVar: 55904
TCGA: ENSG00000005483
COSMIC: KMT2E
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10066 | duloxetine | Chemical | ClinicalAnnotation | associated | PD | 28696415 | |
| PA447321 | Depressive Disorder, Major | Disease | ClinicalAnnotation | associated | PD | 28696415 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32691224 | 2021 | ODLURO syndrome: personal experience and review of the literature. | 9 |
| 33111303 | 2021 | Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. | 8 |
| 33824267 | 2021 | MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. | 3 |
| 32691224 | 2021 | ODLURO syndrome: personal experience and review of the literature. | 9 |
| 33111303 | 2021 | Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. | 8 |
| 33824267 | 2021 | MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. | 3 |
| 33050986 | 2020 | MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1. | 5 |
| 33050986 | 2020 | MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1. | 5 |
| 31079897 | 2019 | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. | 34 |
| 31079897 | 2019 | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. | 34 |
| 28696415 | 2018 | Genome-wide association studies of placebo and duloxetine response in major depressive disorder. | 9 |
| 28696415 | 2018 | Genome-wide association studies of placebo and duloxetine response in major depressive disorder. | 9 |
| 27002166 | 2016 | MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1. | 2 |
| 27812132 | 2016 | The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity. | 23 |
| 27002166 | 2016 | MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1. | 2 |
Citation
Dessen P
KMT2E (lysine methyltransferase 2E (inactive))
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41378/kmt2e-(lysine-methyltransferase-2e-(inactive))
