For Research Use Only. Not for use in diagnostic procedures.

Sf9 insect cells using baculovirus

>80%

50mM Tris-HCl, pH 7.5, 150mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.

0.05 mg/ml (lot specific)

Storage: Store product at -70°C.
For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature.For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
Shipping: Ships with dry ice.
Stability: 1 year at -70°C from date of shipment.

Small volumes of MLL2 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: Recombinant human MLL2 (5317-end) was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.
Scientific Background: Histone-lysine N-methyltransferase 2D, also known as mixed-lineage leukemia 2 (MLL2), methylates 'Lys-4' of histone H3 (H3K4me). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. MLL2/KMT2D is among the most frequently mutated genes in a variety of pediatric tumors.

Enzymes; Active Methyltransferases

Methyltransferase Assay

The specific activity of MLL2 (KMT2D) was determined to be 2.5 nmol/min/mg as per activity assay protocol.

The purity of MLL2 (KMT2D) was determined to be >80% by densitometry, approx. MW 51kDa

51 kDa

lysine methyltransferase 2D

histone-lysine N-methyltransferase 2D

Histone-lysine N-methyltransferase 2D

ALR; MLL2; MLL4; Lysine N-methyltransferase 2D??[Similar Products]

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

MLL4: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Defects in MLL2 are the cause of Kabuki syndrome type 1 (KABUK1). A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Transcription regulation

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: histone methyltransferase complex; nucleoplasm

Molecular Function: histone lysine N-methyltransferase activity (H3-K4 specific); histone-lysine N-methyltransferase activity; protein binding

Biological Process: chromatin silencing; histone H3-K4 methylation; oocyte growth; oogenesis; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; response to estrogen stimulus

Disease: Kabuki Syndrome 1

1. Rao RC, et al: Hijacked in cancer: the KMT2 (MLL) family of methyltransferases. Nat Rev Cancer. 15 (6):334-46. 2015. 2. Huether R. et al: The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun 5: 3630. 2014.
http://www.uniprot.org/uniprot/O14686

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