KMT2B (lysine methyltransferase 2B)

2003-02-01  

Identity

HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
CXXC10,DYT28,HRX2,MLL1B,MLL2,MLL4,TRX2,WBP-7,WBP7
FUSION GENES

Other Information

Locus ID:

NCBI: 9757
MIM: 606834
HGNC: 15840
Ensembl: ENSG00000272333

Variants:

dbSNP: 9757
ClinVar: 9757
TCGA: ENSG00000272333
COSMIC: KMT2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000272333ENST00000420124Q9UMN6

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

References

Pubmed IDYearTitleCitations
234266732013Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice.48
183205962008Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma.38
190609222009Alterations of the CxxC domain preclude oncogenic activation of mixed-lineage leukemia 2.34
262673062015Aven recognition of RNA G-quadruplexes regulates translation of the mixed lineage leukemia protooncogenes.25
279924172017Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.23
263205812015Evolving Catalytic Properties of the MLL Family SET Domain.20
261800872015MLL3 and MLL4 Methyltransferases Bind to the MAFA and MAFB Transcription Factors to Regulate Islet β-Cell Function.18
278398732016Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.17
231297682012A subset of mixed lineage leukemia proteins has plant homeodomain (PHD)-mediated E3 ligase activity.16
227136562012Mixed lineage leukaemia-4 regulates cell-cycle progression and cell viability and its depletion suppresses growth of xenografted tumour in vivo.14

Citation

Dessen P

KMT2B (lysine methyltransferase 2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41377/kmt2b