BTK


Summary: The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
Bruton tyrosine kinaseMIM:300300Ensembl:ENSG00000010671HGNC:HGNC:1133PA25454Xq22.1

GO terms in BTK


Term TypeEvidence TypeGO Term IDGO Des.
MFEXPGO:0004713protein tyrosine kinase activity
MFTASGO:0004713protein tyrosine kinase activity
MFIBAGO:0004715non-membrane spanning protein tyrosine kinase activity
MFTASGO:0004715non-membrane spanning protein tyrosine kinase activity
MFIBAGO:0005102signaling receptor binding
MFIPIGO:0005515protein binding
MFTASGO:0005524ATP binding
MFIDAGO:0005547phosphatidylinositol-3,4,5-trisphosphate binding
MFIPIGO:0042802identical protein binding
MFIEAGO:0046872metal ion binding
CCTASGO:0005634nucleus
CCTASGO:0005737cytoplasm
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIBAGO:0031234extrinsic component of cytoplasmic side of plasma membrane
CCIEAGO:0031410cytoplasmic vesicle
CCIEAGO:0042629mast cell granule
CCIDAGO:0045121membrane raft
CCIEAGO:0048471perinuclear region of cytoplasm
BPIEAGO:0001805positive regulation of type III hypersensitivity
BPIEAGO:0001812positive regulation of type I hypersensitivity
BPIEAGO:0001818negative regulation of cytokine production
BPIBAGO:0002250adaptive immune response
BPTASGO:0002250adaptive immune response
BPIEAGO:0002344B cell affinity maturation
BPIEAGO:0002553histamine secretion by mast cell
BPTASGO:0002721regulation of B cell cytokine production
BPTASGO:0002755MyD88-dependent toll-like receptor signaling pathway
BPTASGO:0002902regulation of B cell apoptotic process
BPIEAGO:0006351transcription, DNA-templated
BPTASGO:0006468protein phosphorylation
BPIBAGO:0007169transmembrane receptor protein tyrosine kinase signaling pathway
BPIEAGO:0007249I-kappaB kinase/NF-kappaB signaling
BPTASGO:0007498mesoderm development
BPIDAGO:0018108peptidyl-tyrosine phosphorylation
BPTASGO:0019722calcium-mediated signaling
BPIBAGO:0030154cell differentiation
BPIEAGO:0030889negative regulation of B cell proliferation
BPIEAGO:0034614cellular response to reactive oxygen species
BPTASGO:0035556intracellular signal transduction
BPIBAGO:0038083peptidyl-tyrosine autophosphorylation
BPTASGO:0038095Fc-epsilon receptor signaling pathway
BPTASGO:0042113B cell activation
BPIBAGO:0042127regulation of cell proliferation
BPIBAGO:0045087innate immune response
BPTASGO:0045087innate immune response
BPTASGO:0045579positive regulation of B cell differentiation
BPIEAGO:0048469cell maturation
BPIBAGO:0050852T cell receptor signaling pathway
BPIBAGO:0050853B cell receptor signaling pathway
BPTASGO:0050853B cell receptor signaling pathway
BPTASGO:0051092positive regulation of NF-kappaB transcription factor activity
BPIEAGO:0071226cellular response to molecule of fungal origin
BPTASGO:0097190apoptotic signaling pathway
BPIEAGO:0098761cellular response to interleukin-7

Gene expression in normal tissue: BTK

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in BTK


DatabasePathway IDPathway Des.
reactomeR-HSA-1236974ER-Phagosome pathway
reactomeR-HSA-1236975Antigen processing-Cross presentation
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-166016Toll Like Receptor 4 (TLR4) Cascade
reactomeR-HSA-166058MyD88:Mal cascade initiated on plasma membrane
reactomeR-HSA-168179Toll Like Receptor TLR1:TLR2 Cascade
reactomeR-HSA-168188Toll Like Receptor TLR6:TLR2 Cascade
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-168898Toll-Like Receptors Cascades
reactomeR-HSA-181438Toll Like Receptor 2 (TLR2) Cascade
reactomeR-HSA-194315Signaling by Rho GTPases
reactomeR-HSA-195258RHO GTPase Effectors
reactomeR-HSA-2029480Fcgamma receptor (FCGR) dependent phagocytosis
reactomeR-HSA-2029482Regulation of actin dynamics for phagocytic cup formation
reactomeR-HSA-2172127DAP12 interactions
reactomeR-HSA-2424491DAP12 signaling
reactomeR-HSA-2454202Fc epsilon receptor (FCERI) signaling
reactomeR-HSA-2454202Fc epsilon receptor (FCERI) signaling
reactomeR-HSA-2871809FCERI mediated Ca+2 mobilization
reactomeR-HSA-2871809FCERI mediated Ca+2 mobilization
reactomeR-HSA-5260271Diseases of Immune System
reactomeR-HSA-5602358Diseases associated with the TLR signaling cascade
reactomeR-HSA-5602498MyD88 deficiency (TLR2/4)
reactomeR-HSA-5603041IRAK4 deficiency (TLR2/4)
reactomeR-HSA-5663213RHO GTPases Activate WASPs and WAVEs
reactomeR-HSA-983169Class I MHC mediated antigen processing & presentation
reactomeR-HSA-983695Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
reactomeR-HSA-983705Signaling by the B Cell Receptor (BCR)
biocartabcrpathwaybcr signaling pathway
biocartafcer1pathwayfc epsilon receptor i signaling in mast cells
biocartaptdinspathwayphosphoinositides and their downstream targets
kegghsa04064NF-kappa B signaling pathway - Homo sapiens (human)
kegghsa04380Osteoclast differentiation - Homo sapiens (human)
kegghsa04611Platelet activation - Homo sapiens (human)
kegghsa04662B cell receptor signaling pathway - Homo sapiens (human)
kegghsa04664Fc epsilon RI signaling pathway - Homo sapiens (human)
kegghsa05340Primary immunodeficiency - Homo sapiens (human)
pidbcr_5pathwayBCR signaling pathway
pidepopathwayEPO signaling pathway
pidfaspathwayFAS (CD95) signaling pathway
pidfcer1pathwayFc-epsilon receptor I signaling in mast cells
pidpi3kcipathwayClass I PI3K signaling events
netpathPathway_BCRBCR
netpathPathway_IL6IL6
smpdbSMP00358Fc Epsilon Receptor I Signaling in Mast Cells
wikipathwaysWP127IL-5 Signaling Pathway
wikipathwaysWP1449Regulation of toll-like receptor signaling pathway
wikipathwaysWP2203Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway
wikipathwaysWP23B Cell Receptor Signaling Pathway
wikipathwaysWP304Kit receptor signaling pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD562Navitoclax2
iGMDRD506Fedratinib2
iGMDRD284Palbociclib1
iGMDRD782DC-45-A23
iGMDRD137Indisulam2
iGMDRD491TAE-6841
iGMDRD280CYTOCHALASIN B2
iGMDRD297Austocystin D5
iGMDRD61Kinetin riboside2
iGMDRD152179324-69-76
iGMDRD57Chloropentafluorobenzene1
iGMDRD546BMS-7548072
iGMDRD427ABT7375
iGMDRD424Tamatinib5
iGMDRD549Ibrutinib (PCI-32765)5
iGMDRD150RITA2
iGMDRD409Saracatinib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BTK

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