Specificity
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Tag/Conjugate
Unconjugated
SequenceSimilarities
Belongs 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 SE
Alternative Names
LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Antigen Description
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]
Function
DNA binding; histone-lysine N-methyltransferase activity; protein binding; transcription regulatory region DNA binding; zinc ion binding;
Synonyms
KMT2D; lysine (K)-specific methyltransferase 2D; ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114; histone-lysine N-methyltransferase 2D; ALL1-related protein; Kabuki make-up syndrome; lysine N-methyltransferase 2D; Kabuki mental retardation syndrome; trinucleotide repeat containing 21; histone-lysine N-methyltransferase MLL2; myeloid/lymphoid or mixed-lineage leukemia 2;
Citations
Publication ()
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COA
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