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)
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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-[[[A137031|histone]]] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[[[A137031|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
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
Notes
- 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