View 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
Associated with diseases ID, KABUK-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Aimee Paulussen
Total number of public variants reported 672
Unique public DNA variants reported 519
Individuals with public variants 663
Hidden variants 40
Date created November 25, 2013
Date last updated January 12, 2016
Version KMT2D:160112

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/KMT2D
HGNC 7133
Entrez Gene 8085
PubMed articles KMT2D
OMIM - Gene 602113
OMIM - Diseases KABUK-1 (Kabuki syndrome, type 1 (KABUK-1))
HGMD KMT2D
GeneCards KMT2D
GeneTests KMT2D


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023885 12 lysine (K)-specific methyltransferase 2D NM_003482.3 NP_003473.3 672


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