catalog number :
MBS515547
products type :
Recombinant Protein
products full name :
MLL2 (KMT2D), Active
products short name :
[MLL2]
other names :
[Homo sapiens lysine methyltransferase 2D (KMT2D), mRNA; Histone-lysine N-methyltransferase 2D; histone-lysine N-methyltransferase 2D; lysine methyltransferase 2D; ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2]
products gene name :
[MLL2]
products gene name syn :
[MLL2; MLL4; KMT2D; AAD10; ALR; CAGL114; KABUK1; KMS; TNRC21]
other gene names :
[KMT2D; KMT2D; ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114; ALR; MLL2; MLL4; Lysine N-methyltransferase 2D]
host :
Sf9 insect cells using baculovirus
sequence positions :
[5317-end]
form :
50mM Tris-HCl, pH 7.5, 150mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.
concentration :
0.05 mg/ml
storage stability :
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.
tested application :
Methyltransferase Assay
image1 heading :
Testing Data
image2 heading :
Testing Data #2
other info1 :
Species: Human. Spcific Activity: 2.5 nmol/min/mg
other info2 :
Tag: GST tag
products categories :
Enzymes; Active Methyltransferases
products description :
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.
products references :
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
ncbi acc num :
NM_003482.3
ncbi gb acc num :
NM_003482
ncbi pathways :
Activation Of HOX Genes During Differentiation Pathway (1339139); Activation Of Anterior HOX Genes In Hindbrain Development During Early Embryogenesis Pathway (1339140); Chromatin Modifying Enzymes Pathway (1270434); Chromatin Organization Pathway (1270433); Deactivation Of The Beta-catenin Transactivating Complex Pathway (1269604); Developmental Biology Pathway (1270302); Formation Of The Beta-catenin:TCF Transactivating Complex Pathway (1269602); Histone Modifications Pathway (920986); Lysine Degradation Pathway (82956); Lysine Degradation Pathway (320)
ncbi summary :
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]
uniprot summary :
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