Statements (50)
| Predicate | Object |
|---|---|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
WHSC1
|
| gptkbp:involvedIn |
cell proliferation
DNA repair epigenetic regulation oncogenesis |
| gptkbp:length |
1365 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:4p16.3
|
| gptkbp:mutationAssociatedWith |
intellectual disability
translocation deletion point mutation 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
|