Gene: KMT2B

Alternate names for this Gene: CXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7

Gene Summary: This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: lysine methyltransferase 2B

Type of Gene: protein-coding

rs1057519279 in KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 28520167 2017 KMT2B rare missense variants in generalized dystonia.

rs1555729045 in KMT2B gene and Movement Disorders PMID 23426673 2013 Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice.

PMID 10409430 1999 MLL2: A new mammalian member of the trx/MLL family of genes.

PMID 27320412 2016 Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 16540515 2006 Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development.

PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 21892160 2011 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

PMID 25405613 2014 Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

rs3848662 in KMT2B gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3848662 in KMT2B gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.