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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Bruton tyrosine kinase | MIM:300300 | Ensembl:ENSG00000010671 | HGNC:HGNC:1133 | PA25454 | Xq22.1 |
GO terms in BTK
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | EXP | GO:0004713 | protein tyrosine kinase activity |
| MF | TAS | GO:0004713 | protein tyrosine kinase activity |
| MF | IBA | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | TAS | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | IBA | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0005524 | ATP binding |
| MF | IDA | GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | TAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane |
| CC | IEA | GO:0031410 | cytoplasmic vesicle |
| CC | IEA | GO:0042629 | mast cell granule |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IEA | GO:0001805 | positive regulation of type III hypersensitivity |
| BP | IEA | GO:0001812 | positive regulation of type I hypersensitivity |
| BP | IEA | GO:0001818 | negative regulation of cytokine production |
| BP | IBA | GO:0002250 | adaptive immune response |
| BP | TAS | GO:0002250 | adaptive immune response |
| BP | IEA | GO:0002344 | B cell affinity maturation |
| BP | IEA | GO:0002553 | histamine secretion by mast cell |
| BP | TAS | GO:0002721 | regulation of B cell cytokine production |
| BP | TAS | GO:0002755 | MyD88-dependent toll-like receptor signaling pathway |
| BP | TAS | GO:0002902 | regulation of B cell apoptotic process |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0006468 | protein phosphorylation |
| BP | IBA | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IEA | GO:0007249 | I-kappaB kinase/NF-kappaB signaling |
| BP | TAS | GO:0007498 | mesoderm development |
| BP | IDA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | TAS | GO:0019722 | calcium-mediated signaling |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0030889 | negative regulation of B cell proliferation |
| BP | IEA | GO:0034614 | cellular response to reactive oxygen species |
| BP | TAS | GO:0035556 | intracellular signal transduction |
| BP | IBA | GO:0038083 | peptidyl-tyrosine autophosphorylation |
| BP | TAS | GO:0038095 | Fc-epsilon receptor signaling pathway |
| BP | TAS | GO:0042113 | B cell activation |
| BP | IBA | GO:0042127 | regulation of cell proliferation |
| BP | IBA | GO:0045087 | innate immune response |
| BP | TAS | GO:0045087 | innate immune response |
| BP | TAS | GO:0045579 | positive regulation of B cell differentiation |
| BP | IEA | GO:0048469 | cell maturation |
| BP | IBA | GO:0050852 | T cell receptor signaling pathway |
| BP | IBA | GO:0050853 | B cell receptor signaling pathway |
| BP | TAS | GO:0050853 | B cell receptor signaling pathway |
| BP | TAS | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | IEA | GO:0071226 | cellular response to molecule of fungal origin |
| BP | TAS | GO:0097190 | apoptotic signaling pathway |
| BP | IEA | GO:0098761 | cellular response to interleukin-7 |
Gene expression in normal tissue: BTK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BTK
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1236974 | ER-Phagosome pathway |
| reactome | R-HSA-1236975 | Antigen processing-Cross presentation |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-166016 | Toll Like Receptor 4 (TLR4) Cascade |
| reactome | R-HSA-166058 | MyD88:Mal cascade initiated on plasma membrane |
| reactome | R-HSA-168179 | Toll Like Receptor TLR1:TLR2 Cascade |
| reactome | R-HSA-168188 | Toll Like Receptor TLR6:TLR2 Cascade |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168898 | Toll-Like Receptors Cascades |
| reactome | R-HSA-181438 | Toll Like Receptor 2 (TLR2) Cascade |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-2172127 | DAP12 interactions |
| reactome | R-HSA-2424491 | DAP12 signaling |
| reactome | R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling |
| reactome | R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling |
| reactome | R-HSA-2871809 | FCERI mediated Ca+2 mobilization |
| reactome | R-HSA-2871809 | FCERI mediated Ca+2 mobilization |
| reactome | R-HSA-5260271 | Diseases of Immune System |
| reactome | R-HSA-5602358 | Diseases associated with the TLR signaling cascade |
| reactome | R-HSA-5602498 | MyD88 deficiency (TLR2/4) |
| reactome | R-HSA-5603041 | IRAK4 deficiency (TLR2/4) |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| reactome | R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
| reactome | R-HSA-983695 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| biocarta | bcrpathway | bcr signaling pathway |
| biocarta | fcer1pathway | fc epsilon receptor i signaling in mast cells |
| biocarta | ptdinspathway | phosphoinositides and their downstream targets |
| kegg | hsa04064 | NF-kappa B signaling pathway - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04611 | Platelet activation - Homo sapiens (human) |
| kegg | hsa04662 | B cell receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04664 | Fc epsilon RI signaling pathway - Homo sapiens (human) |
| kegg | hsa05340 | Primary immunodeficiency - Homo sapiens (human) |
| pid | bcr_5pathway | BCR signaling pathway |
| pid | epopathway | EPO signaling pathway |
| pid | faspathway | FAS (CD95) signaling pathway |
| pid | fcer1pathway | Fc-epsilon receptor I signaling in mast cells |
| pid | pi3kcipathway | Class I PI3K signaling events |
| netpath | Pathway_BCR | BCR |
| netpath | Pathway_IL6 | IL6 |
| smpdb | SMP00358 | Fc Epsilon Receptor I Signaling in Mast Cells |
| wikipathways | WP127 | IL-5 Signaling Pathway |
| wikipathways | WP1449 | Regulation of toll-like receptor signaling pathway |
| wikipathways | WP2203 | Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway |
| wikipathways | WP23 | B Cell Receptor Signaling Pathway |
| wikipathways | WP304 | Kit receptor signaling pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD284 | Palbociclib | 1 |
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD297 | Austocystin D | 5 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD152 | 179324-69-7 | 6 |
| iGMDRD57 | Chloropentafluorobenzene | 1 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD427 | ABT737 | 5 |
| iGMDRD424 | Tamatinib | 5 |
| iGMDRD549 | Ibrutinib (PCI-32765) | 5 |
| iGMDRD150 | RITA | 2 |
| iGMDRD409 | Saracatinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BTK
CLASSFICATION
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