Version 5.4
| Mus musculus Gene: Btk | |||||||||||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||||||||||
| InnateDB Gene | IDBG-171427.6 | ||||||||||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||
| Gene Symbol | Btk | ||||||||||||||||||||||||||||||
| Gene Name | Bruton agammaglobulinemia tyrosine kinase | ||||||||||||||||||||||||||||||
| Synonyms | AI528679; xid | ||||||||||||||||||||||||||||||
| Species | Mus musculus | ||||||||||||||||||||||||||||||
| Ensembl Gene | ENSMUSG00000031264 | ||||||||||||||||||||||||||||||
| Encoded Proteins |
Bruton agammaglobulinemia tyrosine kinase
Bruton agammaglobulinemia tyrosine kinase
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| Protein Structure | |||||||||||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||
| InnateDB Annotation | |||||||||||||||||||||||||||||||
| Summary |
Btk interacts with intracellular MHC class II molecules to activate adaptor molecules Myd88 and Ticam1 to promote TLR signalling.
Btk is a positive regulator in the ITAM-mediated Trem1/Tyrobp pathway, which induces pro-inflammatory cytokines such as TNF-alpha, Il8, and activation/differentiation cell surface markers.
Btk directly phosphorylates Tlr3 and plays a critical role in the induction of inflammatory cytokines and Ifnb.
Btk is required for the activation of natural killer cells.
Btk is a negative regulator of TLR- or TNF-stimulated reactive oxygen species (ROS) production in neutrophils. (Demonstrated in human)
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| InnateDB Annotation from Orthologs | |||||||||||||||||||||||||||||||
| Summary |
[Homo sapiens] BTK is a Toll/interleukin-1 receptor domain-binding protein that participates in NF-kappaB activation by TLR4.
[Homo sapiens] BTK interacts with intracellular MHC class II molecules to activate adaptor molecules MYD88 and TICAM1 to promote TLR signalling. (Demonstrated in murine model)
[Homo sapiens] BTK is a positive regulator in the ITAM-mediated TREM1/TYROBP pathway, which induces pro-inflammatory cytokines such as TNF-alpha, IL8, and activation/differentiation cell surface markers. Patients suffering from X-linked agammaglobulinemia (XLA), which is a rare hereditary disease caused by mutation in the BTK gene, show reduced TNF-alpha induction in PBMCs upon TREM1 engagement.
[Homo sapiens] BTK directly phosphorylates TLR3 and plays a critical role in the induction of inflammatory cytokines and IFNB. (Demonstrated in mice)
[Homo sapiens] BTK is required for the activation of natural killer cells. (Demonstrated in mice)
[Homo sapiens] BTK is a negative regulator of TLR- or TNF-stimulated reactive oxygen species (ROS) production in neutrophils.
[Homo sapiens] BTK regulates TLR9-mediated induction of cytokines in plasmacytoid dendritic cells, but has no role in TLR7 signalling.
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| Entrez Gene | |||||||||||||||||||||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000010671:
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. [provided by RefSeq, Nov 2008] 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] |
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| Gene Information | |||||||||||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||||||||||
| Genomic Location | Chromosome X:134542336-134583570 | ||||||||||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||||||||||
| Band | E3 | ||||||||||||||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 71 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||||||||||
| REACTOME |
Toll Like Receptor 2 (TLR2) Cascade pathway
Innate Immune System pathway
Signaling by the B Cell Receptor (BCR) pathway
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathway
Toll Like Receptor TLR1:TLR2 Cascade pathway
Immune System pathway
Toll Like Receptor TLR6:TLR2 Cascade pathway
Fc epsilon receptor (FCERI) signaling pathway
FCERI mediated Ca+2 mobilization pathway
Toll-Like Receptors Cascades pathway
Adaptive Immune System pathway
Activated TLR4 signalling pathway
MyD88:Mal cascade initiated on plasma membrane pathway
DAP12 interactions pathway
DAP12 signaling pathway
Toll Like Receptor 4 (TLR4) Cascade pathway
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| KEGG |
Fc epsilon RI signaling pathway pathway
B cell receptor signaling pathway pathway
Primary immunodeficiency pathway
Osteoclast differentiation pathway
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| INOH |
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
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| PID NCI | |||||||||||||||||||||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||||||||||
| NETPATH |
KitReceptor pathway
BCR pathway
IL4 pathway
IL5 pathway
IL6 pathway
TSLP pathway
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| REACTOME |
DAP12 signaling pathway
DAP12 interactions pathway
Regulation of actin dynamics for phagocytic cup formation pathway
MyD88:Mal cascade initiated on plasma membrane pathway
Toll Like Receptor TLR1:TLR2 Cascade pathway
Toll Like Receptor TLR6:TLR2 Cascade pathway
Toll Like Receptor 4 (TLR4) Cascade pathway
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathway
Innate Immune System pathway
Toll Like Receptor 2 (TLR2) Cascade pathway
Toll-Like Receptors Cascades pathway
Fc epsilon receptor (FCERI) signaling pathway
Adaptive Immune System pathway
Immune System pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
Activated TLR4 signalling pathway
FCERI mediated Ca+2 mobilization pathway
Signaling by the B Cell Receptor (BCR) pathway
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| KEGG |
Fc epsilon RI signaling pathway pathway
B cell receptor signaling pathway pathway
Primary immunodeficiency pathway
Osteoclast differentiation pathway
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| INOH |
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
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| PID NCI |
EPO signaling pathway
BCR signaling pathway
Fc-epsilon receptor I signaling in mast cells
FAS (CD95) signaling pathway
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| Cross-References | |||||||||||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||||||||||
| TrEMBL | A2BDW0 | ||||||||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||||||||
| Entrez Gene | 12229 | ||||||||||||||||||||||||||||||
| UniGene | Mm.4475 | ||||||||||||||||||||||||||||||
| RefSeq | NM_013482 XM_006528483 XM_006528484 XM_006528485 | ||||||||||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||||||||||
| CCDS | CCDS30396 | ||||||||||||||||||||||||||||||
| HPRD | |||||||||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||||||||
| MGI ID | MGI:88216 | ||||||||||||||||||||||||||||||
| MGI Symbol | Btk | ||||||||||||||||||||||||||||||
| EMBL | AL672064 BX004852 | ||||||||||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||||||||||
| RNA Seq Atlas | 12229 | ||||||||||||||||||||||||||||||