|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:MLL2
gptkb:MLL4
|
|
gptkbp:amendedBy
|
histone H3 lysine 4 (H3K4)
|
|
gptkbp:associatedWith
|
gptkb:Kabuki_syndrome
various cancers
|
|
gptkbp:biologicalProcess
|
chromatin modification
developmental processes
methyltransferase activity
|
|
gptkbp:discoveredBy
|
multiple research groups
|
|
gptkbp:domain
|
SET domain
CXXC domain
FYRC domain
FYRN domain
PHD finger
|
|
gptkbp:encodes
|
gptkb:Lysine_methyltransferase_2D
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:8085
ENSG00000167548
|
|
gptkbp:expressedIn
|
embryonic development
|
|
gptkbp:firstDescribed
|
1997
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
histone methyltransferase
|
|
gptkbp:gene
|
gptkb:KMT2D
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:7133
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KMT2D
|
|
gptkbp:interactsWith
|
gptkb:ASH2L
gptkb:DPY30
gptkb:RBBP5
gptkb:WDR5
|
|
gptkbp:involvedIn
|
transcriptional activation
epigenetic regulation
|
|
gptkbp:length
|
5537 amino acids
|
|
gptkbp:locatedOnChromosome
|
12q13.12
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Kabuki_syndrome_type_1
loss-of-function
|
|
gptkbp:mutationFrequencyInKabukiSyndrome
|
high
|
|
gptkbp:mutationInheritance
|
autosomal dominant
|
|
gptkbp:OMIM
|
602113
|
|
gptkbp:orthologInMouse
|
gptkb:Kmt2d
|
|
gptkbp:pathway
|
histone modification pathway
transcriptional regulation pathway
|
|
gptkbp:RefSeq
|
NM_003482
|
|
gptkbp:regulates
|
gene expression
|
|
gptkbp:tissue_specificity
|
various tissues
|
|
gptkbp:UniProtID
|
O14686
|
|
gptkbp:bfsParent
|
gptkb:chromosome_12
|
|
gptkbp:bfsLayer
|
6
|