|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ATK
gptkb:BPK
XLA
AGMX1
IMD1
PSCTK1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:X-linked_agammaglobulinemia
|
|
gptkbp:discoveredBy
|
gptkb:Ogden_Bruton
|
|
gptkbp:encodes
|
Bruton's tyrosine kinase
|
|
gptkbp:Entrez_Gene_ID
|
695
|
|
gptkbp:expressedIn
|
gptkb:B_lymphocytes
hematopoietic cells
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:fullName
|
Bruton's tyrosine kinase gene
|
|
gptkbp:function
|
B cell development
B cell signaling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
1128
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BTK gene
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:inhibitedBy
|
gptkb:acalabrutinib
gptkb:ibrutinib
zanubrutinib
|
|
gptkbp:length
|
37.5 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
Xq21.3-q22
|
|
gptkbp:mutationAssociatedWith
|
immunodeficiency
|
|
gptkbp:numberOfExons
|
19
|
|
gptkbp:OMIM
|
300300
|
|
gptkbp:orthologInMouse
|
gptkb:Btk
|
|
gptkbp:pathway
|
gptkb:PI3K-Akt_signaling_pathway
gptkb:B_cell_receptor_signaling_pathway
NF-kappa B signaling pathway
|
|
gptkbp:proteinFamily
|
gptkb:PH_domain
gptkb:Tec_family_kinases
kinase domain
SH2 domain
SH3 domain
|
|
gptkbp:significance
|
mutations cause XLA
|
|
gptkbp:targetOfDrug
|
gptkb:acalabrutinib
gptkb:ibrutinib
zanubrutinib
|
|
gptkbp:UniProtID
|
Q06187
|
|
gptkbp:bfsParent
|
gptkb:agammaglobulinemia
gptkb:X-linked_agammaglobulinemia
|
|
gptkbp:bfsLayer
|
7
|