Mus musculus Gene: Btk
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
Protein Structure
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)
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.
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:134542336-134583570
Strand Reverse strand
Band E3
Transcripts
ENSMUST00000033617 ENSMUSP00000033617
ENSMUST00000113213 ENSMUSP00000108839
ENSMUST00000132664
ENSMUST00000150245
ENSMUST00000128333
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.
Experimentally validated
Total 47 [view]
Protein-Protein 47 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 71 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0042802 identical protein binding
GO:0046872 metal ion binding
Biological Process
GO:0000302 response to reactive oxygen species
GO:0002553 histamine secretion by mast cell
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0010033 response to organic substance
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0034614 cellular response to reactive oxygen species
GO:0035556 intracellular signal transduction
GO:0045087 innate immune response (InnateDB)
GO:0046777 protein autophosphorylation
GO:0048469 cell maturation
GO:0071226 cellular response to molecule of fungal origin
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0042629 mast cell granule
GO:0043231 intracellular membrane-bounded organelle
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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
KEGG
Osteoclast differentiation pathway
B cell receptor signaling pathway pathway
Fc epsilon RI signaling pathway pathway
Primary immunodeficiency pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
KitReceptor pathway
BCR pathway
IL4 pathway
IL5 pathway
IL6 pathway
TSLP pathway
REACTOME
Regulation of actin dynamics for phagocytic cup formation pathway
Toll Like Receptor TLR1:TLR2 Cascade pathway
Toll Like Receptor TLR6:TLR2 Cascade pathway
DAP12 signaling 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
MyD88:Mal cascade initiated on plasma membrane pathway
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
Toll Like Receptor 4 (TLR4) Cascade pathway
Activated TLR4 signalling pathway
FCERI mediated Ca+2 mobilization pathway
Signaling by the B Cell Receptor (BCR) pathway
DAP12 interactions pathway
KEGG
Osteoclast differentiation pathway
B cell receptor signaling pathway pathway
Fc epsilon RI signaling pathway pathway
Primary immunodeficiency pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
Bcr signaling pathway [Biocarta view]
Phosphoinositides and their downstream targets [Biocarta view]
Fc epsilon receptor i signaling in mast cells [Biocarta view]
PID NCI
EPO signaling pathway
BCR signaling pathway
Fc-epsilon receptor I signaling in mast cells
FAS (CD95) signaling pathway
Cross-References
SwissProt P35991
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 L08967 L10627 L29788 U58105
GenPept AAA37316 AAA66943 AAB47246
ImmGen Btk (murine)
RNA Seq Atlas 12229