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Details on Person UniProt:Q9UMN6 KMT2B

Class:Id	ReferenceGeneProduct:66479
_chainChangeLog	initiator methionine:1 added on Sat February 7 2015;chain:2-2715 added on Sat February 7 2015;initiator methionine:1 for 66479 removed on Fri Nov 03 2023;initiator methionine: for 66479 added on Fri Nov 03 2023;initiator methionine: for 66479 removed on Fri Aug 15 2025;initiator methionine:1 for 66479 added on Fri Aug 15 2025
_displayName	UniProt:Q9UMN6 KMT2B
_timestamp	2025-08-15 21:08:18
chain	initiator methionine:1 chain:2-2715
checksum	C0615B981BBEB7BF
comment	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:17707229, PubMed:25561738). 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).CATALYTIC ACTIVITY L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)CATALYTIC ACTIVITY N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)SUBUNIT Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1 (PubMed:14992727, PubMed:23508102). Interacts with NFE2 (PubMed:17707229). Interacts with KDM6B (PubMed:17825402). Interacts (via WIN motif) with WDR5 (PubMed:18840606, PubMed:22266653, PubMed:22665483). Interacts (via MBM motif) with MEN1 (PubMed:22327296). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738).INTERACTION 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.DOMAIN The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.CAUTION This protein was first named MLL2 by PubMed:10637508 and PubMed:10409430. MLL2 corresponds to another protein located on chromosome 12 (see AC O14686). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature.SEQUENCE CAUTION Probably cloning artifact.
description	recommendedName: Histone-lysine N-methyltransferase 2B shortName: Lysine N-methyltransferase 2B ecNumber evidence="21"2.1.1.364 alternativeName: Myeloid/lymphoid or mixed-lineage leukemia protein 4 alternativeName: Trithorax homolog 2 alternativeName: WW domain-binding protein 7 shortName: WBP-7
geneName	KMT2B HRX2 KIAA0304 MLL2 MLL4 TRX2 WBP7
identifier	Q9UMN6
isSequenceChanged	FALSE
keyword	3D-structure Acetylation Bromodomain Chromatin regulator Disease variant DNA-binding Dystonia Intellectual disability Isopeptide bond Metal-binding Methyltransferase Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat S-adenosyl-L-methionine Transcription Transcription regulation Transferase Ubl conjugation Zinc Zinc-finger
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
name	KMT2B
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8997234] ENSEMBL:ENSG00000272333 KMT2B [Homo sapiens]
secondaryIdentifier	KMT2B_HUMAN O15022 O95836 Q96GP2 Q96IP3 Q9UK25 Q9Y668 Q9Y669
sequenceLength	2715
species	[Species:48887] Homo sapiens
(referenceEntity)	[EntityWithAccessionedSequence:1183216] KMT2B [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9818620] KMT2B(2-2062) [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9818621] KMT2B(2-2062) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9818623] KMT2B(2063-2715) [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9818624] KMT2B [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9818626] KMT2B(2063-2715) [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9UMN6 KMT2B (66479)