|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alagille_syndrome
gptkb:Hajdu-Cheney_syndrome
|
|
gptkbp:biologicalProcess
|
cell differentiation
embryonic development
receptor activity
|
|
gptkbp:discoveredBy
|
Notch signaling researchers
|
|
gptkbp:encodes
|
gptkb:Neurogenic_locus_notch_homolog_protein_2
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000134250
4853
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1990s
|
|
gptkbp:function
|
signal transduction
cell fate determination
|
|
gptkbp:HGNC_ID
|
7882
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NOTCH2
|
|
gptkbp:interactsWith
|
gptkb:DLL1
gptkb:JAG1
gptkb:RBPJ
|
|
gptkbp:length
|
2471 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p12
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
|
|
gptkbp:OMIM
|
600275
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Notch2
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:proteinFamily
|
gptkb:Notch_family
|
|
gptkbp:RefSeq
|
NM_024408
|
|
gptkbp:UniProtID
|
gptkb:Q04721
|
|
gptkbp:bfsParent
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:bfsLayer
|
7
|