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. 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. An important paralog of this gene is RPGR.
UniProtKB/Swiss-Prot 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.