Lysine methyltransferase 2D

URI: https://gptkb.org/entity/Lysine_methyltransferase_2D
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alsoKnownAs gptkb:MLL2
gptkb:MLL4
gptkbp:amendedBy histone H3 lysine 4 (H3K4)
gptkbp:associatedWith gptkb:cancer
gptkb:Kabuki_syndrome
gptkbp:discoveredBy 1998
gptkbp:Entrez_Gene_ID GC12P049282
gptkbp:enzymeCommissionNumber 2.1.1.354
gptkbp:expressedIn various tissues
gptkbp:function histone methyltransferase
gptkbp:gene gptkb:KMT2D
KMT2D gene
https://www.w3.org/2000/01/rdf-schema#label Lysine methyltransferase 2D
gptkbp:interactsWith gptkb:ASH2L
gptkb:DPY30
gptkb:RBBP5
gptkb:WDR5
gptkbp:involves transcriptional regulation
gptkbp:length ~36 exons
gptkbp:locatedOnChromosome 12q13.12
gptkbp:molecularWeight ~600 kDa
gptkbp:mutationAssociatedWith loss-of-function
Kabuki syndrome 1
gptkbp:OMIM 602113
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse gptkb:Kmt2d
gptkbp:part_of_complex COMPASS-like complex
gptkbp:proteinFamily SET domain-containing proteins
gptkbp:RefSeq NM_003482
gptkbp:UniProtID O14686
gptkbp:bfsParent gptkb:KMT2D
gptkbp:bfsLayer 7