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KMT2D

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.
Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Low cell type specificity

Immune cell specificity

Immune cell enhanced (neutrophil)

Cell line specificity

Low cell line specificity

Interaction

Component of the MLL2 complex (also named ASCOM complex), at least composed of catalytic subunit KMT2D/MLL2, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:23508102, PubMed:17500065, PubMed:12482968, PubMed:16603732, PubMed:17021013, PubMed:17761849, PubMed:17851529). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts with ESR1; interaction is direct (PubMed:16603732). Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653).

Molecular function

Chromatin regulator, Methyltransferase, Transferase

More Types Infomation

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