MLL4 Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Defects in MLL2 are the cause of Kabuki syndrome type 1 (KABUK1). 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. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Methyltransferase; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Transcription regulation
Chromosomal Location of Human Ortholog: 12q13.12
Cellular Component:  histone methyltransferase complex; MLL3/4 complex; nucleoplasm; nucleus
Molecular Function:  DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K4 specific); metal ion binding; protein binding; transcription regulatory region DNA binding
Biological Process:  beta-catenin-TCF complex assembly; chromatin silencing; histone H3-K4 methylation; oocyte growth; oogenesis; positive regulation of cell proliferation; positive regulation of intracellular estrogen receptor signaling pathway; positive regulation of transcription by RNA polymerase II; regulation of megakaryocyte differentiation; regulation of transcription, DNA-templated; response to estrogen
Disease: Kabuki Syndrome 1
Reference #:  O14686 (UniProtKB)
Alt. Names/Synonyms: AAD10; ALL1-related protein; ALR; CAGL114; Histone-lysine N-methyltransferase 2D; Histone-lysine N-methyltransferase MLL2; KMT2D; Lysine N-methyltransferase 2B; MLL2; MLL4; myeloid/lymphoid or mixed-lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; TNRC21; trinucleotide repeat containing 21
Gene Symbols: KMT2D
Molecular weight: 593,389 Da
Basal Isoelectric point: 5.4  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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