KMT2B (Lysine Methyltransferase 2B) is a Protein Coding gene. Diseases associated with KMT2B include myeloid/lymphoid or mixed lineage leukemia and spindle cell sarcoma. Among its related pathways are Lysine degradation and Chromatin organization. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2C. 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.
Histone methyltransferase. Methylates Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. 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. Myeloid/lymphoid or mixed-lineage leukemia 4, also known as MLL4, is a human gene. 0The function about KMT2B antigen include DNA binding; histone methyltransferase activity (H3-K4 specific); protein binding; sequence-specific DNA binding transcription factor activity.