KMT2D

KMT2D
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3UVK, 4ERQ, 4Z4P
Identifiers
Aliases	KMT2D, ALR, KABUK1, MLL2, MLL4, lysine methyltransferase 2D, histone-lysine methyltransferase 2D, TNRC21, AAD10, KMS, CAGL114
External IDs	OMIM: 602113; MGI: 2682319; HomoloGene: 86893; GeneCards: KMT2D; OMA:KMT2D - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	49,060,794 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	98,769,085 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; internal globus pallidus; ; sural nerve; ; tendon of biceps brachii; ; granulocyte; ; cardia; ; right uterine tube; ; gastrocnemius muscle; ; right hemisphere of cerebellum; ; left uterine tube;
	Top expressed in
	zygote; ; neural layer of retina; ; secondary oocyte; ; granulocyte; ; tail of embryo; ; muscle of thigh; ; superior frontal gyrus; ; primary visual cortex; ; lip; ; ventricular zone;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	metal ion binding; transferase activity; DNA binding; methyltransferase activity; protein binding; histone-lysine N-methyltransferase activity; histone methyltransferase activity (H3-K4 specific); DNA-binding transcription factor activity, RNA polymerase II-specific; transcription coactivator activity; histone binding;
Cellular component	nucleoplasm; MLL3/4 complex; nucleus; histone methyltransferase complex;
Biological process	positive regulation of intracellular estrogen receptor signaling pathway; transcription, DNA-templated; methylation; positive regulation of cell population proliferation; oogenesis; oocyte growth; response to estrogen; positive regulation of transcription by RNA polymerase II; histone H3-K4 methylation; regulation of transcription, DNA-templated; beta-catenin-TCF complex assembly; regulation of megakaryocyte differentiation; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	8085
	381022
	ENSG00000167548
	ENSMUSG00000048154
	O14686
	Q6PDK2
	NM_003482
	NM_001033276; NM_001033388
	NP_003473
	NP_001028448
	Wikidata
View/Edit Human	View/Edit Mouse

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. It is part of a family of six Set1-like H3K4 methyltransferases that also contains KMT2A (or MLL1), KMT2B (or MLL2), KMT2C (or MLL3), KMT2F (or SET1A), and KMT2G (or SET1B).

KMT2D is a large protein over 5,500 amino acids in size and is widely expressed in adult tissues. The protein co-localizes with lineage determining transcription factors on transcriptional enhancers and is essential for cell differentiation and embryonic development. It also plays critical roles in regulating cell fate transition, metabolism, and tumor suppression.

Mutations in KMT2D cause human genetic conditions including Kabuki syndrome, another distinct congenital malformations disorder and various forms of cancer.