Location [1]
Chromatin remodeling/DNA methylation
Protein [2]
Histone-lysine N-methyltransferase 2D
Synonyms [1]

Lysine (K)-specific methyltransferase 2D (KMT2D) is a gene that encodes a protein that functions as a histone methyltransferase that methylates the LYS-4 position of histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestine cancer, skin cancer, and stomach cancer.

KMT2D is altered in 9.96% of all cancers with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

KMT2D GENIE Cases - Top Diseases

The most common alterations in KMT2D are KMT2D Mutation (8.24%), KMT2D Amplification (0.10%), KMT2D Loss (0.07%), KMT2D Fusion (0.20%), and KMT2D-GPS2 Fusion (0.20%) [3].

KMT2D GENIE Cases - Top Alterations

Significance of KMT2D in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Malignant Solid Tumor +

Medulloblastoma, WNT-Activated +

Bladder Carcinoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Glioblastoma +

Anaplastic Astrocytoma +

Breast Carcinoma +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

Melanoma +

Endometrial Endometrioid Adenocarcinoma +

Lymphoma +

Esophageal Squamous Cell Carcinoma +

Anaplastic Oligodendroglioma +

Head And Neck Carcinoma +

Colorectal Carcinoma +

Sarcomatoid Carcinoma +

Malignant Ovarian Endometrioid Tumor +

Non-Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Ependymoma +

Malignant Glioma +

Diffuse Glioma +

Adenocarcinoma Of The Gastroesophageal Junction +

Esophageal Adenocarcinoma +

Anaplastic Ependymoma +

Malignant Ovarian Clear Cell Tumor +

Ovarian Carcinoma +

High-Grade Glioma, NOS +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Sarcoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Synovial Sarcoma +

Epithelioid Sarcoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Gastric Squamous Cell Carcinoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Pineoblastoma +

Rhabdoid Tumor +


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.