Recombinant Human Histone-lysine N-methyltransferase 2D (KMT2D), Truncated

Uniprot Id

O14686

Target Species

Human

Target Name

KMT2D

Target Full Name

Histone-lysine N-methyltransferase 2D

Target Function

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Target Involvement

Kabuki syndrome 1 (KABUK1)

Target Subcellular Location

Nucleus.

Target Protein Families

Class V-like SAM-binding methyltransferase superfamily, Histone-lysine methyltransferase family, TRX/MLL subfamily

Target Tissue Specificity

Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Target Synonyms

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