Aliases for BTK Gene
External Ids for BTK Gene
Previous HGNC Symbols for BTK Gene
Previous GeneCards Identifiers for BTK Gene
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]
GeneCards Summary for BTK Gene
BTK (Bruton Agammaglobulinemia Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BTK include agammaglobulinemia, x-linked 1 and agammaglobulinemia and isolated hormone deficiency. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include identical protein binding and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is FER.
UniProtKB/Swiss-Prot for BTK Gene
Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis.
Bruton's Tyrosine Kinase (BTK) is member of the Tec family that is critically important for the growth, differentiation and activation of myeloid-, mast- and B-cells. BTK is activated firstly by membrane localization stimulated by PIP3 generation, and subsequently, by transphosphorylation of Tyr-551 by Src family kinases. Activated BTK is involved in the phosphorylation of a number of signaling molecules involved in the PLCgamma, JNK and p38 MAPK pathways, leading to Ca2+ mobilization, mRNA stabilization and the induction of NF-kappaB and AP-1 transcription factors. BTK activity is negatively regulated by a number of proteins including inhibitor of BTK (IBTK), Sab and c-Cbl. Mutations in this enzyme are known in humans and result in the immunological disorder X-linked agammaglobulemia.