Gene Report
Approved Symbol | BTK |
---|---|
Approved Name | Bruton agammaglobulinemia tyrosine kinase |
Previous Symbol | AGMX1, IMD1 |
Symbol Alias | ATK, XLA, PSCTK1 |
Location | Xq21.33-q22 |
Position | chrX:100604435-100641212 (-) |
External Links |
Entrez Gene: 695 Ensembl: ENSG00000010671 UCSC: uc004ehg.2 HGNC ID: 1133 |
No. of Studies (Positive/Negative) | 1(1/0) |
Type | Literature-origin |
Name in Literature | Reference | Research Type | Statistical Result | Relation Description | |
---|---|---|---|---|---|
BTK | Aston, 2005 | patients and normal controls | Genes altered in major depressive disorder Genes altered in major depressive disorder |
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Genetic/Epigenetic Locus | Protein and Other Molecule | Cell and Molecular Pathway | Neural System | Cognition and Behavior | Symptoms and Signs | Environment | MDD |
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Approved Name | UniportKB | No. of Studies (Positive/Negative) | Source | |
---|---|---|---|---|
Tyrosine-protein kinase BTK | Q06187 | 0(0/0) | Gene mapped |
Literature-origin GO terms | ||||
ID | Name | Type | Evidence | |
---|---|---|---|---|
GO:0032553 | ribonucleotide binding | molecular function | IEA | |
GO:0032553 | ribonucleotide binding | molecular function | IEA | |
GO:0032553 | ribonucleotide binding | molecular function | TAS[11913944] |
Gene mapped GO terms | ||||
ID | Name | Type | Evidence | |
---|---|---|---|---|
GO:0046872 | metal ion binding | molecular function | IEA | |
GO:0005737 | cytoplasm | cellular component | TAS[15046600] | |
GO:0051092 | positive regulation of NF-kappaB transcription factor activity | biological process | TAS[19290921] | |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | biological process | TAS | |
GO:0034142 | toll-like receptor 4 signaling pathway | biological process | TAS | |
GO:0002250 | adaptive immune response | biological process | TAS[19290921] | |
GO:0004715 | non-membrane spanning protein tyrosine kinase activity | molecular function | TAS[19290921] | |
GO:0006351 | transcription, DNA-dependent | biological process | IEA | |
GO:0005515 | protein binding | molecular function | IPI | |
GO:0002224 | toll-like receptor signaling pathway | biological process | TAS | |
GO:0005829 | cytosol | cellular component | IDA[17823121]; TAS | |
GO:0045579 | positive regulation of B cell differentiation | biological process | TAS[19290921] | |
GO:0006468 | protein phosphorylation | biological process | TAS[11913944] | |
GO:0005886 | plasma membrane | cellular component | IDA[17823121]; TAS | |
GO:0019722 | calcium-mediated signaling | biological process | TAS[15046600] | |
GO:0050853 | B cell receptor signaling pathway | biological process | TAS[19290921] | |
GO:0007498 | mesoderm development | biological process | TAS[8013627] | |
GO:0034130 | toll-like receptor 1 signaling pathway | biological process | TAS | |
GO:0042802 | identical protein binding | molecular function | IPI[11577348] | |
GO:0034134 | toll-like receptor 2 signaling pathway | biological process | TAS | |
GO:0005524 | ATP binding | molecular function | TAS[11913944] | |
GO:0045121 | membrane raft | cellular component | IDA[15046600] | |
GO:0045087 | innate immune response | biological process | TAS | |
GO:0007249 | I-kappaB kinase/NF-kappaB cascade | biological process | IEA | |
GO:0005634 | nucleus | cellular component | TAS[19290921] | |
GO:0018108 | peptidyl-tyrosine phosphorylation | biological process | IEA | |
GO:0002902 | regulation of B cell apoptotic process | biological process | TAS[19290921] | |
GO:0031410 | cytoplasmic vesicle | cellular component | IEA | |
GO:0004713 | protein tyrosine kinase activity | molecular function | TAS | |
GO:0035556 | intracellular signal transduction | biological process | TAS[11913944] | |
GO:0008063 | Toll signaling pathway | biological process | TAS | |
GO:0002721 | regulation of B cell cytokine production | biological process | TAS[19290921] | |
GO:0043231 | intracellular membrane-bounded organelle | cellular component | IDA | |
GO:0042113 | B cell activation | biological process | TAS[19290921] | |
GO:0097190 | apoptotic signaling pathway | biological process | TAS[8688094] | |
GO:0048469 | cell maturation | biological process | IEA | |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | molecular function | IDA[17823121] |
Gene mapped KEGG pathways | ||||
ID | Name | Brief Description | Full Description | |
---|---|---|---|---|
hsa04662 | b cell_receptor_signaling_pathway | B cell receptor signaling pathway | B cells are an important component of adaptive immunity. The...... B cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor (BCR) is an integral membrane protein complex that is composed of two immunoglobulin (Ig) heavy chains, two Ig light chains and two heterodimers of Ig-alpha and Ig-beta. After BCR ligation by antigen, three main protein tyrosine kinases (PTKs) -the SRC-family kinase LYN, SYK and the TEC-family kinase BTK- are activated. Phosphatidylinositol 3-kinase (PI3K) and phospholipase C-gamma 2 (PLC-gamma 2) are important downstream effectors of BCR signalling. This signalling ultimately results in the expression of immediate early genes that further activate the expression of other genes involved in B cell proliferation, differentiation and Ig production as well as other processes. More... | |
hsa05340 | primary immunodeficiency | Primary immunodeficiency | Primary immunodeficiencies (PIs) are a heterogeneous group o...... Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs. More... | |
hsa04664 | fc epsilon_ri_signaling_pathway | Fc epsilon RI signaling pathway | Fc epsilon RI-mediated signaling pathways in mast cells are ...... Fc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation pathways are regulated both positively and negatively by the interactions of numerous signaling molecules. Mast cells that are thus activated release preformed granules which contain biogenic amines (especially histamines) and proteoglycans (especially heparin). The activation of phospholipase A2 causes the release of membrane lipids followed by development of lipid mediators such as leukotrienes (LTC4, LTD4 and LTE4) and prostaglandins (especially PDG2). There is also secretion of cytokines, the most important of which are TNF-alpha, IL-4 and IL-5. These mediators and cytokines contribute to inflammatory responses. More... |
Gene mapped BioCarta pathways | ||||
ID | Name | Brief Description | Full Description | |
---|---|---|---|---|
PTDINS_PATHWAY | ptdins pathway | Phosphoinositides and their downstream targets. | Nine currently identified phosphoinositide 3-kinases (PI 3-K...... Nine currently identified phosphoinositide 3-kinases (PI 3-K) constitute a subfamily of lipid kinases that catalyze the addition of a phosphate molecule on the 3-position of the inositol ring of phosphoinositides. Phosphatidylinositol (PtdIns), the precursor of all phosphoinosi-tides (PI), constitutes less than 10% of the total lipid in eukaryotic cell membranes. Approximately 5% of cellular PI is phosphorylated at the 4-position (PtdIns-4-P), and another 5% is phosphorylated at both the 4- and 5-positions (PtdIns-4,5-P2 ). However, less than 0.25% of the total inositol-containing lipids are phosphorylated at the 3-position, consistent with the idea that these lipids exert specific regulatory functions inside the cell, as opposed to a structural function. Here we have chosen to highlight a group of the phosphoinositide targets of the PI3-Ks and their downstream targets. The downstream effects of these PI-3 targets are indicated in the lower band illustrating the important role the PI3Ks have in cell function and survival. More... | |
BCR_PATHWAY | bcr pathway | BCR Signaling Pathway | Significant progress has been made towards delineation of th...... Significant progress has been made towards delineation of the intrinsic molecular processes that regulate B lymphocyte immune function. Recent observations have provided a clearer picture of the interactive signaling pathways that emanate from the mature B cell antigen receptor (BCR) complex and the different precursor complexes that are expressed during development. Studies have also revealed that the net functional response to a given antigenic challenge is affected by the combined action of BCR-dependent signaling pathways, as well as those originating from various coreceptors expressed by B cells (e.g. CD19, CD22, FcgRIIb and PIR-B). It is now well established that reversible tyrosine phosphorylation plays an important role in regulating B cell biology. In particular, binding of antigen to the BCR promotes the activation of several protein tyrosine kinases (PTK) that, in conjunction with protein tyrosine phosphatases (PTP), alter the homeostasis of reversible tyrosine phosphorylation in the resting B cell. The net effect is a transient increase in protein tyrosine phosphorylation that facilitates the phosphotyrosine dependent formation of effector protein complexes, promotes targeting of effector proteins to specific microenvironments within the B cell and initiates the catalytic activation of downstream effector proteins. Studies have demonstrated that Src family PTKs are activated initially and serve to phosphorylate CD79a and CD79b thereby creating phosphotyrosine motifs that recruit downstream signaling proteins. In particular, phosphorylation of the BCR complex leads to the recruitment and activation of the PTK Syk, which in turn promotes phosphorylation of PLCg, Shc and Vav. Additionally, the Tec family member Btk is recruited to the plasma membrane where it is involved in activation of PLCg. Initiation of B lymphocyte activation is dependent on the tyrosine phosphorylation-dependent formation of multi-molecular effector protein complexes that activate downstream signaling pathways. The formation of such complexes was initially hypothesized to occur primarily via effector protein binding to the BCR complex itself. However, recent studies have demonstrated that productive signaling via the BCR is in fact dependent on tyrosine phosphorylation of one or more adapter proteins that play a crucial role in recruitment and organization of effector proteins at the plasma membrane. The SLP-65/BLNK adapter protein has recently been shown to play a crucial role in recruitment and activation of key signal transducing effector proteins in the B cell. After the BCR has been engaged by antigen and the activation response has been initiated, numerous second messengers and intermediate signal transducing proteins are activated. These include the production of lipid second messengers by phosphatidylinositol 3-kinase, and the PLC-dependent hydrolysis of phosphatidylinositol 4,5-bisphosphate to yield diacylglycerol and 1,4,5-inositoltrisphosphate (IP3). DAG is important for activation of PKC whereas IP3 promote release of calcium from the endoplasmic reticulum and the subsequent influx Ca2+ from the extracellular space. Numerous intermediate signaling proteins are also activated including the Ras and Rap1, which are small molecular weight GTPases and these ultimately lead to the activation of MAP kinases including Erk, JNK and p38. The net effect of second messenger production and activation of intermediate signaling proteins is the concerted regulation of several transcription factors that mediate gene transcription in the B cell. More... | |
FCER1_PATHWAY | fcer1 pathway | Fc Epsilon Receptor I Signaling in Mast Cells | The Fc Epsilon Receptor 1 signaling pathway in mast cells us...... The Fc Epsilon Receptor 1 signaling pathway in mast cells uses multiple core signal path to achieve its necessary ends. Through the BTK protein and PKC Mast cells are able to degranulate, through the PKC and MAPK paths the cells are able to alter cytokine expression and arachidonic acid release. More... |
BTK related interactors from protein-protein interaction data in HPRD (count: 57)
Gene | Interactor | Interactor in MK4MDD? | Experiment Type | PMID | |
---|---|---|---|---|---|
BTK | IRAK1 | No | in vivo | 12724322 | |
BTK | GNAQ | No | in vitro;in vivo | 9770463 | |
BTK | ITK | No | in vitro;in vivo | 12445832 , 8630736 , 11598012 , 8629002 , 12573241 | |
BTK | TNFRSF10A | No | in vivo | 15007095 | |
BTK | PIK3AP1 | No | in vitro | 11163197 | |
BTK | SH3BP5 | No | in vitro;in vivo | 9571151 , 10339589 | |
BTK | JAK1 | No | in vivo | 9178903 | |
BTK | CMTM3 | No | in vivo | 15087455 | |
BTK | FAS | No | in vivo | 9751072 | |
BTK | KHDRBS1 | No | in vivo | 9201297 | |
BTK | PRKCZ | No | in vitro;in vivo | 11788586 , 7522330 | |
BTK | GNA12 | No | in vitro;in vivo | 9796816 | |
BTK | PIP4K2B | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | PIP5K1A | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | PRKD1 | No | in vitro;in vivo | 10561498 | |
BTK | PLCG1 | No | in vitro | 15184383 | |
BTK | MYD88 | No | in vivo | 12724322 | |
BTK | PIP5K1B | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | BMX | No | in vitro | 12573241 | |
BTK | CD19 | No | in vitro | 10201980 | |
BTK | PIP4K2C | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | LYN | No | in vitro;in vivo | 8058772 , 11226282 , 11598012 , 8629002 , 8630736 | |
BTK | BLNK | No | in vitro;in vivo | 10498607 , 10556826 , 16969585 | |
BTK | PIP5K1C | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | SH2B2 | No | in vitro | 10872802 | |
BTK | ARID3A | No | in vitro | 15203319 | |
BTK | PRKCA | No | in vitro;in vivo | 11788586 , 7522330 | |
BTK | TLR6 | No | yeast 2-hybrid | 12724322 | |
BTK | SYK | No | in vitro;in vivo | 11226282 , 11598012 , 8629002 , 8630736 | |
BTK | BTK | Yes | in vitro;in vivo | 11527964 , 11231015 , 12445832 , 8630736 , 11598012 , 8629002 , 12573241 | |
BTK | WAS | No | in vitro;in vivo | 8892607 , 12235133 , 10068673 , 12769846 , 9742969 | |
BTK | PRKCB | No | in vitro;in vivo | 11598012 | |
BTK | DAPP1 | No | in vitro | 11524430 | |
BTK | ARHGAP17 | No | in vitro | 11431473 | |
BTK | TEC | No | in vitro;in vivo | 12445832 , 8630736 , 11598012 , 8629002 , 12573241 | |
BTK | RELA | No | in vitro | 15849198 | |
BTK | TP53 | No | in vitro | 15355990 | |
BTK | STAT5A | No | in vivo | 8617237 , 7925280 , 11413148 | |
BTK | EWSR1 | No | in vivo | 9201297 | |
BTK | PLCG2 | No | in vitro | 11507089 | |
BTK | GNG2 | No | in vivo | 7972043 , 11698416 | |
BTK | CAV1 | No | in vitro | 11751885 | |
BTK | CBL | No | in vitro | 10427990 , 7629518 | |
BTK | PIP4K2A | No | in vitro;in vivo | 15046600 , 14614850 | |
BTK | WASF2 | No | in vitro | 10427990 | |
BTK | IBTK | Yes | in vitro;in vivo;yeast 2-hybrid | 11577348 | |
BTK | TLR8 | No | yeast 2-hybrid | 12724322 | |
BTK | GTF2I | No | in vitro;in vivo | 9012831 , 10373551 , 14623887 , 9837922 , 11373296 , 11313464 , 11934902 | |
BTK | ABL1 | No | in vitro;in vivo | 12445832 , 8630736 , 11598012 , 8629002 , 12573241 | |
BTK | TLR4 | No | yeast 2-hybrid | 12724322 | |
BTK | TLR9 | No | yeast 2-hybrid | 12724322 | |
BTK | TIRAP | No | in vitro;in vivo | 16439361 , 16415872 , 12724322 | |
BTK | HCK | No | in vitro | 8058772 | |
BTK | PRKCQ | Yes | in vitro;in vivo | 11788586 | |
BTK | PRKCE | No | in vitro;in vivo | 11788586 , 7522330 | |
BTK | VAV1 | No | in vivo | 9201297 | |
BTK | KIT | No | in vivo | 15007095 |