|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:JAK-3
gptkb:JAK3_HUMAN
gptkb:Janus_kinase_3
L-JAK
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:severe_combined_immunodeficiency_(SCID)
gptkb:autosomal_recessive_SCID
|
|
gptkbp:discoveredBy
|
researchers studying cytokine signaling
|
|
gptkbp:encodes
|
Janus kinase 3 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000105639
3718
|
|
gptkbp:expressedIn
|
hematopoietic cells
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:fullName
|
gptkb:Janus_kinase_3
|
|
gptkbp:function
|
tyrosine kinase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6193
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
JAK3 gene
|
|
gptkbp:interactsWith
|
gptkb:common_gamma_chain_(IL2RG)
cytokine receptors
|
|
gptkbp:involvedIn
|
immune system regulation
cytokine receptor signaling
|
|
gptkbp:length
|
24 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
gptkb:19p13.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
impaired lymphocyte development
|
|
gptkbp:OMIM
|
600173
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Jak3
|
|
gptkbp:pathway
|
gptkb:JAK-STAT_signaling_pathway
interleukin signaling
|
|
gptkbp:proteinFamily
|
gptkb:Janus_kinase_family
|
|
gptkbp:significance
|
target for immunosuppressive drugs
|
|
gptkbp:targetOfDrug
|
gptkb:ruxolitinib
gptkb:tofacitinib
gptkb:decernotinib
|
|
gptkbp:UniProtID
|
gptkb:P52333
|
|
gptkbp:bfsParent
|
gptkb:JAK3
|
|
gptkbp:bfsLayer
|
7
|