The KMT2D gene homepage

General information
Gene symbol KMT2D
Gene name lysine (K)-specific methyltransferase 2D
Chromosome 12
Chromosomal band q13.12
Imprinted Unknown
Genomic reference NG_027827.1
Transcript reference NM_003482.3
Exon/intron information NM_003482.3 exon/intron table
Associated with diseases ID, KABUK, KABUK1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1436
Unique public DNA variants reported 964
Individuals with public variants 1319
Hidden variants 99
Download all this gene's data Download all data
Notes Alias MLL2.
We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created June 06, 2011
Date last updated April 07, 2021
Version KMT2D:210407

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003482.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 7133
Entrez Gene 8085
PubMed articles KMT2D
OMIM - Gene 602113
OMIM - Diseases KABUK1 (syndrome, Kabuki, type 1 (KABUK1))
GeneCards KMT2D
GeneTests KMT2D
Orphanet KMT2D

Active transcripts




NCBI ID     

NCBI Protein ID     

00023885 12 lysine (K)-specific methyltransferase 2D NM_003482.3 NP_003473.3 1436

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.