Overview

Location [1]
11q23.3
Synonyms [1]
MLL, TRX1, MLL1A, HRX, ALL-1, HTRX1, WDSTS, MLL1, CXXC7

Lysine (K)-specific methyltransferase 2A (KMT2A; also known as MLL) is a gene that encodes a protein that functions as a transcriptional coactivator. The protein is involved in cellular processes including the regulation of gene expression and hematopoiesis. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

Significance of KMT2A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Primary Myelofibrosis +

Hodgkin Lymphoma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Acute Biphenotypic Leukemia +

Multiple Myeloma +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Chronic Lymphocytic Leukemia +

Acute Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Mantle Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Secondary Myelofibrosis +

Anaplastic Large Cell Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Marginal Zone Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Therapy-Related Acute Myeloid Leukemia +

Acute Undifferentiated Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

B-Cell Non-Hodgkin Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-1 +

Myeloid Neoplasm +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Prolymphocytic Leukemia +

Acute Bilineal Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

Atypical Burkitt/Burkitt-Like Lymphoma +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

Desmoplastic Small Round Cell Tumor +

Diffuse Large B-Cell Lymphoma Activated B-Cell Type +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Mucocutaneous Ulcer +

Essential Thrombocythemia +

Ewing Sarcoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

HHV8-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Hematopoietic And Lymphoid Malignancy +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Intravascular Large B-Cell Lymphoma +

Leukemia +

Lymphomatoid Granulomatosis +

Malignant Solid Tumor +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Neuroblastoma +

Overt Primary Myelofibrosis +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type +

Primary Effusion Lymphoma +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Triple-Hit Lymphoma +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.