|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
MMSET
NSD2
|
|
gptkbp:associatedWith
|
gptkb:Wolf-Hirschhorn_syndrome
multiple myeloma
|
|
gptkbp:biologicalProcess
|
chromatin organization
regulation of transcription
histone-lysine N-methyltransferase activity
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
|
|
gptkbp:discoveredBy
|
researchers studying Wolf-Hirschhorn syndrome
|
|
gptkbp:encodes
|
histone-lysine N-methyltransferase NSD2
|
|
gptkbp:Entrez_Gene_ID
|
7468
ENSG00000109685
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
Wolf-Hirschhorn syndrome candidate 1
|
|
gptkbp:function
|
chromatin modification
histone methyltransferase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:NSD1
NSD3
|
|
gptkbp:HGNC_ID
|
HGNC:12762
|
|
gptkbp:involvedIn
|
cell proliferation
DNA repair
epigenetic regulation
oncogenesis
|
|
gptkbp:length
|
1365 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:4p16.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:intellectual_disability
gptkb:point_mutation
translocation
deletion
seizures
developmental delay
craniofacial abnormalities
growth retardation
skeletal anomalies
|
|
gptkbp:OMIM
|
602952
|
|
gptkbp:orthologInMouse
|
Nsd2
|
|
gptkbp:orthologInZebrafish
|
whsc1l1
|
|
gptkbp:proteinFamily
|
gptkb:HMG_box
PWWP domain
SET domain
|
|
gptkbp:RefSeq
|
NM_133330
NP_597677
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
O96028
|
|
gptkbp:bfsParent
|
gptkb:4p16.3
gptkb:chromosome_4p16.3
|
|
gptkbp:bfsLayer
|
7
|
|
http://www.w3.org/2000/01/rdf-schema#label
|
WHSC1
|