|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
HSPC069
HYPB
KMT3A
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:amendedBy
|
histone H3 lysine 36 (H3K36)
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
clear cell renal cell carcinoma
overgrowth syndrome
Luscan-Lumish syndrome
|
|
gptkbp:biologicalProcess
|
DNA repair
chromatin modification
transcription regulation
histone-lysine N-methyltransferase activity
|
|
gptkbp:domain
|
gptkb:WW_domain
AWS domain
SET domain
SRI domain
Post-SET domain
|
|
gptkbp:encodes
|
SET domain containing 2 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000136104
29072
|
|
gptkbp:expressedIn
|
gptkb:nucleus
|
|
gptkbp:firstDescribed
|
2001
|
|
gptkbp:function
|
histone methyltransferase
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:29076
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SETD2
|
|
gptkbp:interactsWith
|
gptkb:RNA_polymerase_II
gptkb:hnRNP_L
LEDGF/p75
|
|
gptkbp:length
|
2564 amino acids
gene: ~147 kb
|
|
gptkbp:locatedOnChromosome
|
3p21.31
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
tumorigenesis
frequent in renal cell carcinoma
|
|
gptkbp:OMIM
|
612778
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Setd2
|
|
gptkbp:orthologInZebrafish
|
setd2
|
|
gptkbp:pathway
|
chromatin organization
DNA double-strand break repair
epigenetic regulation of gene expression
|
|
gptkbp:postTranslationalModification
|
methylation
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q9BYW2
|
|
gptkbp:bfsParent
|
gptkb:chromosome_3
|
|
gptkbp:bfsLayer
|
6
|