Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine 4 (H3K4) mono- methyltransferase. [5] .

Dec 25, 2024 · KMT2D (Lysine Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include Kabuki Syndrome 1 and Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome.

The KMT2D gene, also known as MLL2 , provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Learn about this gene and related health conditions.

KMT2D is a major mammalian H3K4 mono-methyltransferase and co-localizes with lineage determining transcription factors on transcriptional enhancers. It is required for the binding of histone H3K27 acetyltransferases CBP and p300 on enhancers, enhancer activation and cell-type specific gene expression during differentiation.

Studies have shown that genetic ablation of Kmt2d or KMT2D knockdown accelerated the oncogene (Bcl2)-driven lymphomagenesis of B cells in mice [30, 35]. In addition, Kmt2d deletion in CD19+ early B cells induced spontaneous lymphoma in 58% of mice .

About 50–80% of the Kabuki syndrome cases are caused by mutations or large deletions in the KMT2D gene. Most of the mutations in the KMT2D gene are de novo and act in dominant form. The main causative mutations reported in KMT2D are protein-truncating variants.

Dec 10, 2024 · 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.

HGNC Approved Gene Symbol: KMT2D. Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38) : 12:49,018,978-49,060,794 (from NCBI) The SET domain is a motif characteristic of proteins such as human ALL1 (159555) and Drosophila 'trithorax' (trx) and is found at the C terminus of the 2 proteins.

KMT2D represents a recurrently mutated gene with potential implication for pheochromocytoma development. Identify MLL4 as a major mammalian H3K4 mono- and di-methyltransferase essential for enhancer activation during cell differentiation.

5 days ago · MLL4 (KMT2D) is essential for embryonic development, regulating gene expression programs that drive cellular differentiation and organogenesis. Knockout studies in model organisms, including mice and zebrafish, show that loss of MLL4 leads to severe developmental abnormalities, including defects in neural, cardiac, and skeletal formation.