KMT2D (lysine methyltransferase 2D)

2003-02-01  

Identity

HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21
FUSION GENES

Other Information

Locus ID:

NCBI: 8085
MIM: 602113
HGNC: 7133
Ensembl: ENSG00000167548

Variants:

dbSNP: 8085
ClinVar: 8085
TCGA: ENSG00000167548
COSMIC: KMT2D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167548ENST00000301067O14686
ENSG00000167548ENST00000526209H0YEF2
ENSG00000167548ENST00000547610F8VWW4
ENSG00000167548ENST00000650290A0A3B3ISC8

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402
Developmental BiologyREACTOMER-HSA-1266738
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217961192011Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.506
207111752010Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.452
171788412007Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.185
243687342013H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.155
243687342013H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.155
243687342013H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.155
240813322013The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers.129
263667102015The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development.92
263667122015Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.90
265516672015The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.79

Citation

Dessen P

KMT2D (lysine methyltransferase 2D)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41375/kmt2d