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MGP003451

UniProt Annotations

Entry Information
Gene Namelysine (K)-specific methyltransferase 2D
Protein EntryKMT2D_HUMAN
UniProt IDO14686
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14686-1; Sequence=Displayed; Name=3; IsoId=O14686-3; Sequence=VSP_008560;
Catalytic ActivityS-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065}.
CautionAnother protein KMT2B/MLL4, located on chromosome 19, was first named MLL2 (see AC Q9UMN6). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature. {ECO:0000305}.
DiseaseKabuki syndrome 1 (KABUK1) [MIM:147920]: 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. {ECO:0000269|PubMed:20711175, ECO:0000269|PubMed:21280141}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainLXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
FunctionHistone 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. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.
InteractionP03372:ESR1; NbExp=3; IntAct=EBI-996065, EBI-78473; Q14686:NCOA6; NbExp=6; IntAct=EBI-996065, EBI-78670;
MiscellaneousThis gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.
SimilarityBelongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}.
SimilarityContains 1 FYR C-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00876}.
SimilarityContains 1 FYR N-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00875}.
SimilarityContains 1 post-SET domain. {ECO:0000255|PROSITE- ProRule:PRU00155}.
SimilarityContains 1 SET domain. {ECO:0000255|PROSITE- ProRule:PRU00190}.
SimilarityContains 4 RING-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00175}.
SimilarityContains 5 PHD-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00146}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitComponent of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ESR1; interaction is direct. {ECO:0000269|PubMed:12482968, ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17021013, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17761849, ECO:0000269|PubMed:17851529}.
Tissue SpecificityExpressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
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