KMT2B

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. [provided by RefSeq, Jul 2008]

Full Name

Lysine Methyltransferase 2B

Function

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17707229).
Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements (PubMed:24081332).
Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229).
Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity).
Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity).

Biological Process

Chromatin organizationIEA:UniProtKB-KW
Histone H3-K4 dimethylationManual Assertion Based On ExperimentIDA:CACAO
Histone H3-K4 methylationManual Assertion Based On ExperimentIMP:UniProtKB
Histone H3-K4 monomethylationManual Assertion Based On ExperimentIDA:CACAO
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus

Involvement in disease

Dystonia 28, childhood-onset (DYT28):
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.