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MLL2
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. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: DNA-binding; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Transcription factor |
| Chromosomal Location of Human Ortholog: 19q13.12 |
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Cellular Component:
histone methyltransferase complex; nucleoplasm; nucleus
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Molecular Function:
DNA binding; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K4 specific); protein binding; zinc ion binding
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Biological Process:
chromatin-mediated maintenance of transcription; gene silencing; histone H3-K4 methylation; histone H3-K4 trimethylation; memory; oocyte differentiation; ovarian follicle development; ovulation; regulation of histone H3-K4 methylation; regulation of megakaryocyte differentiation; regulation of transcription by RNA polymerase II
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Disease: Dystonia 28, Childhood-onset
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Reference #:
Q9UMN6
(UniProtKB)
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Alt. Names/Synonyms: Histone-lysine N-methyltransferase 2B; Histone-lysine N-methyltransferase MLL4; HRX2; KIAA0304; KMT2B; KMT2D; lysine (K)-specific methyltransferase 2B; Lysine N-methyltransferase 2D; mixed lineage leukemia gene homolog 2; MLL2; MLL4; myeloid/lymphoid or mixed-lineage leukemia 4; Myeloid/lymphoid or mixed-lineage leukemia protein 4; Trithorax homolog 2; trithorax homologue 2; TRX2; WBP-7; WBP7; WW domain binding protein 7; WW domain-binding protein 7
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Gene Symbols: KMT2B
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Molecular weight:
293,515 Da
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Basal Isoelectric point:
8.59
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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