Aliases for IBTK Gene
External Ids for IBTK Gene
Previous HGNC Symbols for IBTK Gene
Previous GeneCards Identifiers for IBTK Gene
Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for IBTK Gene
IBTK (Inhibitor Of Bruton Tyrosine Kinase) is a Protein Coding gene. Diseases associated with IBTK include Agammaglobulinemia and Keratoconus. Among its related pathways are B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein tyrosine kinase inhibitor activity.
UniProtKB/Swiss-Prot Summary for IBTK Gene
Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription.