Aliases for TYROBP Gene
External Ids for TYROBP Gene
Previous HGNC Symbols for TYROBP Gene
Previous GeneCards Identifiers for TYROBP Gene
This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
GeneCards Summary for TYROBP Gene
TYROBP (TYRO Protein Tyrosine Kinase Binding Protein) is a Protein Coding gene. Diseases associated with TYROBP include Nasu-Hakola Disease and Tyrobp-Related Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Cell junction organization. GO annotations related to this gene include identical protein binding and signal transducer activity, downstream of receptor.
UniProtKB/Swiss-Prot for TYROBP Gene
Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin.