histone-lysine N-methyltransferase 2B; lysine N-methyltransferase 2B; myeloid/lymphoid or mixed-lineage leukemia protein 4; trithorax homolog 2; WW domain-binding protein 7; WBP-7 (KMT2B, HRX2, KIAA0304, MLL2, MLL4, TRX2, WBP7)

Function: - histone methyltransferase - methylates Lys-4 of histone H3 - H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation - role in beta-globin locus transcription regulation by being recruited by NFE2 - role in controlling bulk H3K4me during oocyte growth & preimplantation development - required during the transcriptionally active period of oocyte growth for the establishment &/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival & normal zygotic genome activation - component of menin histone methyltransferase complex - interacts with NFE2. interacts with KDM6B S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone] Structure: - belongs to the class V-like SAM-binding methyltransferase superfamily, histone-lysine methyltransferase family, TRX/MLL subfamily - contains 3 A.T hook DNA-binding domains - contains 1 CXXC-type Zn⁺² finger - contains 1 FYR C-terminal domain - contains 1 FYR N-terminal domain - contains 3 PHD-type Zn⁺² fingers - contains 1 post-SET domain - contains 1 SET domain Compartment: nucleus (putative) Alternative splicing: named isoforms=2 Expression: - widely expressed - highest levels in testis - also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes & pancreas Pathology: - often amplified in pancreatic carcinomas Note: - protein was first named MLL2 [2,3] - MLL2 corresponds to another protein located on chromosome 12 (see AC O14686). Thus, KMT2B/MLL4 is often referred to as MLL2 & vice versa in the literature

General

histone N-methyltransferase nuclear protein phosphoprotein zinc finger protein

Properties

SIZE: entity length = 2715 aa MW = 294 kD COMPARTMENT: cell nucleus MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl glycine-rich region {26-37} A+T hook SITE: 37-44 A+T hook SITE: 110-117 proline-rich region SITE: 248-255 MOTIF: proline residue (SEVERAL) A+T hook SITE: 357-365 acidic region {362-398} MOTIF: acidic residue (SEVERAL) proline-rich region SITE: 402-771 MOTIF: proline residue (SEVERAL) glutamine-rich region {808-812} MOTIF: glutamine residue (SEVERAL) Ser phosphorylation site {S821} Ser phosphorylation site {S844} Ser phosphorylation site {S861} Zinc finger NAME: Zinc finger SITE: 959-1006 EFFECTOR-BOUND: Zn+2 Ser phosphorylation site {S1032} Ser phosphorylation site {S1035} Zn finger PHD-type NAME: Zn finger PHD-type SITE: 1201-1252 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 1249-1303 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 1335-1396 EFFECTOR-BOUND: Zn+2 FYR N-terminal {1727-1783} Ser phosphorylation site {S1930} proline-rich region SITE: 1963-1970 MOTIF: proline residue (SEVERAL) Thr phosphorylation site {T2068} Ser phosphorylation site {S2070} Thr phosphorylation site {T2083} proline-rich region SITE: 2251-2259 MOTIF: proline residue (SEVERAL) FYR C-terminal {2411-2492} SET domain {2575-2691} MOTIF: binding site SITE: 2585-2585 FOR-BINDING-OF: S-adenosylmethionine binding site SITE: 2587-2587 FOR-BINDING-OF: S-adenosylmethionine binding site SITE: 2629-2629 FOR-BINDING-OF: S-adenosylmethionine binding site SITE: 2652-2653 FOR-BINDING-OF: S-adenosylmethionine Zn+2-binding site SITE: 2655-2655 post-SET domain {2699-2715} MOTIF: Zn+2-binding site SITE: 2703-2703 binding site SITE: 2704-2704 FOR-BINDING-OF: S-adenosylmethionine Zn+2-binding site SITE: 2705-2705 Zn+2-binding site SITE: 2710-2710

Database Correlations

OMIM 606834 UniProt Q9UMN6 PFAM correlations Entrez Gene 9757 Kegg hsa:9757 ENZYME 2.1.1.43;