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Immunogen sequence: AQLADTLFSK GLGPWDPPDN LAETQKPEQS SLVPGHLDQV NGQVVPEASQ LSIKQEPREE PCALGAQSVK REANGEPIGA PGTSNHLLLA GPRSEAGHLL LQKLLRAKNV QLSTGRGSEG LRAEINGHI
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 84%.
KMT2D is a histone methyltransferase that methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. KMT2D acts as a coactivator for estrogen receptors by being recruited by ESR1 and activating transcription. KMT2D is involved in chromatin organization, chormatin silencig, oocyte growth, oogenesis, and a positive regulation of cell proliferation. Mutations in the KMT2D gene cause Kabuki syndrome (KABUK1) which results in congential mental retardation syndrome.
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Protein Aliases: ALL1-related protein; Histone-lysine N-methyltransferase 2D; histone-lysine N-methyltransferase MLL2; Kabuki make-up syndrome; Kabuki mental retardation syndrome; lysine (K)-specific methyltransferase 2D; Lysine N-methyltransferase 2D; myeloid/lymphoid or mixed-lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; trinucleotide repeat containing 21
Gene Aliases: AAD10; ALR; CAGL114; KABUK1; KMS; KMT2D; MLL2; MLL4; TNRC21
UniProt ID: (Human) O14686
Entrez Gene ID: (Human) 8085