Overview

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • AccessionO14686
    • SpeciesHuman
    • SequenceDSQNLAGEDKDSQ-C
    • Amino acids2 to 14
    • Additional sequence informationEntrez gene ID: 8085

Associated products

Specifications

Our Abpromise guarantee covers the use of ab23289 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking - Blocking peptide for Anti-KMT2D / MLL2 antibody (ab15962)

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

General Info

  • Alternative names
    • AAD10
    • ALL1 related gene
    • ALL1-related protein
    • ALR
    • CAGL114
    • Histone-lysine N-methyltransferase MLL2
    • KABUK1
    • Kabuki make up syndrome
    • Kabuki mental retardation syndrome
    • KMS
    • KMT2B
    • KMT2D
    • Lysine N methyltransferase 2D
    • Lysine N-methyltransferase 2B
    • MLL2
    • MLL2_HUMAN
    • MLL4
    • Myeloid/lymphoid or mixed lineage leukemia 2
    • Myeloid/lymphoid or mixed-lineage leukemia protein 2
    • TNRC21
    • Trinucleotide repeat containing 21
    see all
  • FunctionHistone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. 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.
  • Tissue specificityExpressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
  • Involvement in diseaseDefects in MLL2 are the cause of Kabuki syndrome (KABS) [MIM:147920]. It is 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.
  • Sequence similaritiesBelongs to the histone-lysine methyltransferase family. TRX/MLL subfamily.
    Contains 1 FY-rich C-terminal domain.
    Contains 1 FY-rich N-terminal domain.
    Contains 5 PHD-type zinc fingers.
    Contains 1 post-SET domain.
    Contains 4 RING-type zinc fingers.
    Contains 1 SET domain.
  • DomainLXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localizationNucleus.
  • Information by UniProt

References for Human KMT2D / MLL2 peptide (ab23289)

ab23289 has not yet been referenced specifically in any publications.

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