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KMT2D

Gene

lysine methyltransferase 2D

HGNCHGNC:7133EnsemblENSG00000167548NCBI Gene8085
Locus: gene with protein productLocation: 12q13.12

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asTNRC21 · MLL2 · ALR · MLL4 · CAGL114
View full nomenclature history (10)
Previous symbolsTNRC21, MLL2
Alias symbolsALR, MLL4, CAGL114
Previous namestrinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2, lysine (K)-specific methyltransferase 2D
Alias namesALL1-related, histone-lysine N-methyltransferase 2D

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Lymphoma, Large B-Cell, Diffuse
Squamous Cell Carcinoma of Head and Neck
Prostate adenocarcinoma
Squamous cell lung carcinoma
Medulloblastoma
Genetic Diseases, Inborn
Urinary Bladder Neoplasms

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

PHD finger proteinsHistone lysine methyltransferasesSET domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.